Nancy B. Spinner, PhD, FACMG

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Nancy B. Spinner, PhD, FACMG is the Chief of the Division of Genomic Diagnostics at Children's Hospital of Philadelphia.

Areas of Expertise: Alagille syndrome and other chromosome 20 abnormalities, Cytogenetic studies of patients with developmental and syndromic disorders permitting identification of genomic rearrangements associated with genetic disease, Molecular cytogenetics
Locations: Main Hospital
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)


The Spinner Laboratory studies the genetics of several pediatric disorders focusing on both identifying the specific genes that cause disease, and understanding how mutations in these genes can cause related clinical phenotypes. 

Current projects focus on utilization of exome and whole genome sequencing for pediatric diagnosis, understanding the genetics of two pediatric liver disorders, Alagille syndrome and biliary atresia, and molecular analysis of ring chromosome 14 and 20, both of which are associated with seizures. 

Their clinical sequencing project is carried out in collaboration with Dr. Ian Krantz’s laboratory and is part of the Clinical Sequencing Exploratory Research (CSER) project, funded by the NHGRI. The goals of this network are to identify best practices for pediatric exome sequencing.

Our work on Alagille syndrome and Biliary Atresia is carried out in collaboration with Drs. Marcella Devoto, Kathy Loomes, Ian Krantz and David Piccoli at CHOP, and as part of the NIDDK funded Childhood Liver Disease Research Network (ChiLDReN). Our work on biliary atresia is aimed at identifying genetic susceptibility factors and we are using GWAS, exome sequencing and analysis of copy number variation to look for genetic underpinnings for this clearly complex and likely heterogeneous disorder. 

A more recent project is to understand the mechanism by which ring chromosomes cause human disease and in particular we are focusing on two ring chromosomes that are associated with seizures.  Even in cases where the ring chromosomes are molecularly intact, with no deletions or duplications, affected individuals have a clinical phenotype, and we are working with Drs. Stewart Anderson, Jay Mills and Laura Conlin, to develop a neuronal cell model for these ring chromosomes.  Since the seizure phenotype emerges with age of the patients, we believe that understanding the cause of the seizures may lead us to better treatments.

Education and Training


Genetics - The Children's Hospital of Philadelphia, Philadelphia, PA

Graduate Degree

PhD in Genetics - University of California, Berkeley/San Diego State, La Jolla, CA

Additional Training

Postdoctoral training in cytogenetics - The Children' Hospital of Philadelphia and the University of Pennsylvania School of Medicine

Titles and Academic Titles

Chief, Division of Genomic Diagnostics

Evelyn Willing Bromley Endowed Chair in Pathology and Clinical Laboratories

Professor of Pathology and Genetics, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Research Interests

Identification and analysis of genes involved in pediatric disease, with focus on Ring Chromosome 20 syndrome
Alagille syndrome and biliary atresia




Rajagopalan R, Gilbert MA, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB.: Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results. Genet Med 23(2): 323-330, Feb 2021 Notes: doi: 10.1038/s41436-020-00989-8. Epub 2020 Oct 20.

Schindler EA, Gilbert MA, Piccoli DA, Spinner NB, Krantz ID, Loomes KM.: Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes. Am J Med Genet A 185(3): 719-731, Mar 2021 Notes:  doi: 10.1002/ajmg.a.62028. Epub 2020 Dec 24.


Kamath BM, Ye W, Goodrich NP, Loomes KM, Romero R, Heubi JE, Leung DH, Spinner NB, Piccoli DA, Alonso EM, Guthery SL, Karpen SJ, Mack CL, Molleston JP, Murray KF, Rosenthal P, Squires JE, Teckman J, Wang KS, Thompson R, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).: Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study. Hepatol Commun 4(3): 387-398, Jan 2020 Notes: doi: 10.1002/hep4.1468. eCollection 2020 Mar.

Rajagopalan, R, Tsai, EA, Grochowski, CM, Kelly, SM, Loomes, KM, Spinner, NB, Devoto, M: Exome Sequencing in Individuals with Isolated Biliary Atresia. Scientific reports 10(1): 2709, Feb 2020.

Biswas, S, Medne, L, Devkota, B, Bedoukian, E, Berrodin, D, Izumi, K, Deardorff, MA, Tarpinian, J, Leonard, J, Pyle, L, Gray, C, Montgomery, J., Williams, T, Fortunato, S, Weatherly, J, McEldrew, D, Kaur, M, Raible, SE, Wilkens, A, Spinner, NB, Skraban, C, Krantz, ID: A Centralized Approach for Practicing Genomic Medicine. Pediatrics 145(3): e20190855, Mar 2020 Notes: DOI: 10.1542/peds.2019-0855. Epub 2020 Feb 26.

Gilbert, MA, Schultz-Rogers, L, Rajagopalan, R, Grochowski, CM, Wilkins, BJ, Biswas, S, Conlin, LK, Fiorino, KN, Dhamija, R, Pack, MA, Klee, EW, Piccoli, DA, Spinner, NB: Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Human Mutation 41(5): 973-982, May 2020 Notes: doi: 10.1002/humu.23986. Epub 2020 Feb 6.

Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB: Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. Front Pediatr. Page: 373, Jul 8 2020 Notes: doi: 10.3389/fped.2020.00373.

Zhao X, Lorent K, Escobar-Zarate D, Rajagopalan R, Loomes KM, Gillespie K, Mesaros C, Estrada MA, Blair I, Winkler JD, Spinner NB, Devoto M, Pack M.: Impaired redox and protein homeostasis as risk factors and therapeutic targets in toxin-induced biliary atresia. Gastroenterology 159(3): 1068-1084, Sep 2020 Notes: doi: 10.1053/j.gastro.2020.05.080.

Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, de Lucas R, Pérez-Jurado LA, Ruiz Pérez VL, Torrelo A, Spinner NB, Happle R, Biesecker LG, Lapunzina P.: A six-attribute classification of genetic mosaicism. Genet Med 22(11): 1743-1757, Nov  2020 Notes: doi: 10.1038/s41436-020-0877-3. Epub 2020 Jul 14.


Spinner, NB, Krantz, ID: Expanded non-invasive prenatal diagnostics. Nature medicine 25(3): 361-362, Mar 2019.

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A.: Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. JAMA Netw Open. 2(4): e192129, Apr 2019 Notes: jamanetworkopen.2019.2129_

Chao, W, Devkota, B, Perry, P, Zhao, X, Baker, SW, Niazi, R, Cao, K, Gonzalez, MA, Jayaraman, P, Conlin, LK, Krock, BL, Deardorff, MA, Spinner, NB, Krantz, ID, Santani, AB, Tayoun, ANA, Sarmady, M: Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. European Journal of Human Genetics: EJHG 27(4): 612-620, Apr 2019.

Hart, MR, Biesecker, BB, Blout, CL, Christensen, KD, Amendola, LM, Bergstrom, KL, Biswas, S, Bowling, KM, Brothers, KB, Conlin, LK, Cooper, GM, Dulik, MC, East, KM, Everett, JN, Finnila, CR, Ghazani, AA, Gilmore, MJ, Goddard, KAB, Jarvik, GP, Johnston, JJ, Kauffman, TL, Kelley, WV, Krier, JB, Lewis, KL, McGuire, AL, McMullen, C, Ou, J, Plon, SE, Rehm, HL, Richards, CS, Romasko, EJ, Miren, SA, Spinner, NB, Thompson, ML, Turbitt, E, Vassy, JL, Wilfond, BS, Veenstra, DL, Berg, JS, Green, RC, Biesecker, LG, Hindorff, LA: Secondary Findings from Clinical Genomic Sequencing: Prevalence, Patient Perspectives, Family History Assessment, and Health-care Costs from a Multisite Study. Genetics in Medicine: Official Journal of the American College of Medical Genetics 21(5): 1100-1110, May 2019 Notes: doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5.

Hart, MR, Biesecker, BB, Blout, CL, Christensen, KD, Amendola, LM, Bergstrom, KL, Biswas, S, Bowling, KM, Brothers, KB, Conlin, LK, Cooper, GM, Dulik, MC, East, KM, Everett, JN, Finnila, CR, Ghazani, AA, Gilmore, MJ, Goddard, KAB, Jarvik, GP, Johnston, JJ, Kauffman, TL, Kelley, WV, Krier, JB, Lewis, KL, McGuire, AL, McMullen, C, Ou, J, Plon, SE, Rehm, HL, Richards, CS, Romasko, EJ, Sagardia AM, Spinner, NB, Thompson, ML, Turbitt, E, Vassy, JL, Wilfond, BS, Veenstra, DL, Berg, JS, Green, RC, Biesecker, LG, Hindorff, LA: Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genetics in Medicine : Official Journal of the American College of Medical Genetics 21(5): 1261-1262, May 2019 Notes: doi: 10.1038/s41436-019-0440-2.

Berauer, JP, Mezina, AI, Okou, DT, Sabo, A, Muzny, DM, Gibbs, RA, Hegde, MR, Chopra, P, Cutler, DJ, Perlmutter, DH, Bull, LN, Thompson, RJ, Loomes, KM, Spinner, NB, Rajagopalan, R, Guthery, SL, Moore, B, Yandell, M, Harpavat, S, Magee, JC, Kamath, BM, Molleston, JP, Bezerra, J.A., Murray, KF, Alonso, EM, Rosenthal, P, Squires, RH, Wang, KS, Finegold, MJ, Russo, P, Sherker, AH, Sokol, RJ, Karpen, SJ: Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology  70(3): 899-910, Sep 2019 Notes: doi: 10.1002/hep.30515. Epub 2019 Mar 21.

Gilbert, MA, Bauer, RC, Rajagopalan, R, Grochowski, CM, Chao, G, McEldrew, D, Nassur, JA, Rand, EB, Krock, BL, Kamath, BM, Krantz, ID, Piccoli, DA, Loomes, KM, Spinner, NB: Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 40(12): 2197-2220, Dec 2019 Notes: doi: 10.1002/humu.23879. Epub 2019 Aug 26.


Abou Tayoun, AN, Spinner, NB, Rehm, HL, Green, RC, Bianchi, DW: Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations. Prenat Diagn 38(1): 26-32, Jan 2018.

Romasko, E.J., Devkota, B., Biswas, S., Jayaraman, V., Rajagopalan, R., Dulik, M.C., Thom, C.S., Choi, J., Jairam, S., Scarano, M.I., Krantz, I.D., Spinner, N.B., Conlin, L.K., Lambert, M.P.: Utility and Limitations of Exome Sequencing in the Molecular Diagnosis of Pediatric Inherited Platelet Disorders. Am J Hematol. 93(1): 8-16, Jan 2018.

Gibson, KM,  Nesbitt, A,  Cao, K,  Yu, Z,  Denenberg, E,  DeChene, E,  Guan, Q,  Bhoj, E,  Zhou, X,  Zhang, B,  Wu, C,  Dubbs, H,  Wilkens, A,  Medne, L,  Bedoukian, E,  White, PS,  Pennington, J,  Lou, M,  Conlin, L,  Monos, D,  Sarmady, M,  Marsh, E,  Zackai, E,  Spinner, N,  Krantz, I,  Deardorff, M,  Santani, A: Novel Findings with Reassessment of Exome Data: Implications for Validation Testing and Interpretation of Genomic Data. Genet Med 20(3): 329-336, Mar 2018.

Guan, Q,  Balciuniene, J,  Cao, K,  Fan, Z,  Biswas, S,  Wilkens, A,  Gallo, DJ,  Bedoukian, E,  Tarpinian, J,  Jayaraman, P,  Sarmady, M,  Dulik, M,  Santani, A,  Spinner, N,  Abou Tayoun, AN,  Krantz, ID,  Conlin, LK,  Luo, M: AUDIOME: A Tiered Exome Sequencing-based Comprehensive Gene Panel for the Diagnosis of Heterogeneous Nonsyndromic Sensorineural Hearing Loss. Genet Med Mar 29 2018.

Chen, Y, Gilbert, MA, Grochowski, CM, McEldrew, D, Llewellyn, J, Waisbourd-Zinman, O, Hakonarson, H, Bailey-Wilson, JE, Russo, P, Wells, RG, Loomes, KM, Spinner, NB, Devoto, M: A Genome-Wide Association Study Identifies a Susceptibility Locus for Biliary Atresia on 2p16.1 within the Gene EFEMP1. PLoS Genetics 14(8): E1007532, Aug 2018.

Sheppard, S, Biswas, S, Li, MH, Jayaraman, V, Slack, I, Romasko, EJ, Sasson, A, Brunton, J, Rajagopalan, R, Sarmady, M, Abrudan, JL, Jairam, S, DeChene, ET, Ying, X, Choi, J, Wilkens, A, Raible, SE, Scarano, MI, Santani, A, Pennington, JW, Luo, M, Conlin, LK, Devkota, B, Dulik, MC, Spinner, NB, Krantz, ID: Utility and Limitations of Exome Sequencing as a Genetic Diagnostic Tool for Children with Hearing Loss. Genet Med 20(12): 1663-1676, Dec 2018 Notes: doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15.


Lin, H, Zoll, B, Russo, P, Spinner, NB, Loomes, KM: A Challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome. J Pediatr Gastroenterol Nutr. 64(1): e18-e22, Jan 2017.

O'Daniel, JM, McLaughlin, HM, Amendola, LM, Bale, SJ, Berg, JS, Bick, D, Bowling, KM, Chao, EC, Chung, WK, Conlin, LK, Cooper, GM, Das, S, Deignan, JL, Dorschner, MO, Evans, JP, Ghazani, AA, Goddard, KA, Gornick, M, Farwell Hagan, KD, Hambuch, T, Hegde, M, Hindorff, LA, Holm, IA, Jarvik, GP, Knight Johnson, A, Mighion, L, Morra, M, Plon, SE, Punj, S, Richards, CS, Santani, A, Shirts, BH, Spinner, NB, Tang, S, Weck, KE, Wolf, SM, Yang, Y, Rehm, HL: A Survey of Current Practices for Genomic Sequencing Test Interpretation and Reporting Processes in US Laboratories. Genet Med. 19(5): 575-582, May 2017.

Reiff, M, Bugos, E, Giarelli, E, Bernhardt, BA, Spinner, NB, Sankar, PL, Mulchandani, S: "Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD. J Autism Dev Disord. 47(5): 1453-1463, May 2017.

Luo,  M, Fan, J, Wenger, TL, Harr, MH, Racobaldo, M, Mulchandani, S, Dubbs, H, Zackai, EH, Spinner, NB, Conlin, LK: CMIP Haploinsufficiency in Two Patients with Autism Spectrum Disorder and Co-Occurring Gastrointestinal Issues. Am J Med Genet A 173(8): 2101-2107, Aug 2017.

Gilbert, MA, Spinner, NB: Alagille syndrome: Genetics and Functional Models. Curr Pathobiol Rep 5(3): 233-241, Sep 2017.


Grochowski, CM, Loomes, KM, Spinner, NB: Jagged1 (JAG1): Structure, expression, and disease associations. Gene 576(1 Pt 3): 381-4, Jan 15 2016.

Izumi, K, Hayashi, D, Grochowski, CM, Kubota, N, Nishi, E, Arakawa, M, Hiroma, T, Hatata, T, Ogiso, Y, Nakamura, T, Falsey, AM, Hidaka, E, Spinner, NB: Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. Am J Med Genet A 170(2): 471-5, Feb 2016.

Rajagopalan, R, Grochowski, CM, Gilbert, MA, Falsey, AM, Coleman, K, Romero, R, Loomes, KM, Piccoli, DA, Devoto, M, Spinner, NB: Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Am J Med Genet A 170(3): 750-3, Mar 2016.

Mulchandani, S, Bhoj, EJ, Luo, M, Powell-Hamilton, N, Jenny, K,  Gripp, KW, Elbracht, M, Eggermann, T, Turner, CL, Temple, IK, Mackay, DJ, Dubbs, H, Stevenson, DA, Slattery, L, Zackai, EH,  Spinner, NB, Krantz, ID, Conlin, LK: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med 18(4): 309-15, Apr 2016.

Mouzaki, M, Bass, LM, Sokol, RJ, Piccoli, DA, Quammie, C, Loomes, KM, Heubi, JE, Hertel, PM, Scheenstra, R, Furuya, K, Kutsch, E,  Spinner, NB, Robbins, KN, Venkat, V, Rosenthal, P, Beyene, J,  Baker, A, Kamath, BM: Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. Liver Int 36(5): 755-60, May 2016.

Green, RC,  Goddard, KA,  Jarvik, GP,  Amendola, LM,  Appelbaum, PS,  Berg, JS,  Bernhardt, BA,  Biesecker, LG,  Biswas, S,  Blout, CL,  Bowling, KM,  Brothers, KB,  Burke, W,  Caga-Anan, CF,  Chinnaiyan, AM,  Chung, WK,  Clayton, EW,  Cooper, GM,  East, K,  Evans, JP,  Fullerton, SM,  Garraway, LA,  Garrett, JR,  Gray, SW,  Henderson, GE,  Hindorff, LA,  Holm, IA,  Lewis, MH,  Hutter, CM,  Janne, PA,  Joffe, S,  Kaufman, D,  Knoppers, BM,  Koenig, BA,  Krantz, ID,  Manolio, TA,  McCullough, L,  McEwen, J,  McGuire, A,  Muzny, D,  Myers, RM,  Nickerson, DA,  Ou, J,  Parsons, DW,  Petersen, GM,  Plon, SE,  Rehm, HL,  Roberts, JS,  Robinson, D,  Salama, JS,  Scollon, S,  Sharp, RR,  Shirts, B,  Spinner, NB,  Tabor, HK,  Tarczy-Hornoch, P,  Veenstra, DL,  Wagle, N,  Weck, K,  Wilfond, BS,  Wilhelmsen, K,  Wolf, SM,  Wynn, J,  Yu, JH: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet 98(6): 1051-66, Jun 2016.

Spinner, NB: Cytogenetic Highlights and Transitions. Am J Med Genet C Semin Med Genet. 172(2): 87-91, Jun 2016.

Abou Tayoun, AN, Krock, B, Spinner, NB: Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. Expert Rev Mol Diagn 16(9): 987-99, Sep 2016.

Tsai, EA, Gilbert, MA, Grochowski, CM, Underkoffler, LA, Meng, H, Zhang, X, Wang, MM, Shitaye, H, Hankenson, KD, Piccoli, D, Lin, H, Kamath, BM, Devoto, M, Spinner, NB, Loomes, KM: THBS2 is a candidate modifier of liver disease severity in Alagille syndrome. Cell Mol Gastroenterol Hepatol 2(5): 663-675e.2, Sep 2016 Notes:

Bowdin, S, Gilbert, A, Bedoukian, E, Carew, C, Adam, MP, Belmont, J, Bernhardt, B, Biesecker, L, Bjornsson, HT, Blitzer, M, D'Alessandro, LCA, Deardorff, MA, Demmer, L, Elliott, A, Feldman, GL, Glass, IA, Herman, G, Hindorff, L, Hisama, F, Hudgins, L, Innes, AM, Jackson, L, Jarvik, G, Kim, R, Korf, B, Ledbetter, DH, Li, M, Liston, E, Marshall, C, Medne, L, Meyn, MS, Monfared, N, Morton, C, Mulvihill, JJ, Plon, SE, Rehm, H, Roberts, A, Shuman, C, Spinner, NB, Stavropoulos, DJ, Valverde, K, Waggoner, DJ, Wilkens, A, Cohn, RD, Krantz, ID: Recommendations for the integration of genomics into clinical practice. Genet Med. 18(11): 1075-1084, Nov 2016.


Grochowski Christopher M, Loomes Kathleen M, Spinner Nancy B. Jagged1 (JAG1): Structure, expression, and disease associations. Gene. 2016 Jan 15;576(1 Pt 3):381-4. doi: 10.1016/j.gene.2015.10.065. Epub 2015 Nov 6.

Tilib Shamoun S, Le Friec G, Spinner N, Kemper C, Baker AJ. Immune dysregulation in Alagille syndrome: A new feature of the evolving phenotype. Clin Res Hepatol Gastroenterol. 2015 Oct;39(5):566-9. doi: 10.1016/j.clinre.2015.02.003. Epub 2015 May 27.

Reiff M, Giarelli E, Bernhardt BA, Easley E, Spinner NB, Sankar PL, Mulchandani S. Parents' Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders. J Autism Dev Disord 45(10): 3262-75, Oct 2015.

Izumi K, Hayashi D, Grochowski CM, Kubota N, Nishi E, Arakawa M, Hiroma T, Hatata T, Ogiso Y, Nakamura T, Falsey AM, Hidaka E, Spinner NB. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. Am J Med Genet A. 2016 Feb;170(2):471-5. doi: 10.1002/ajmg.a.37429. Epub 2015 Oct 13.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K,  Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin L.K. Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6.

Mouzaki M, Bass LM, Sokol RJ, Piccoli DA, Quammie C, Loomes KM, Heubi JE, Hertel PM, Scheenstra R, Furuya K, Kutsch E, Spinner NB, Robbins KN, Venkat V, Rosenthal P, Beyene J,  Baker, A, Kamath BM. Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. Liver Int. 2015 Jul 22. doi: 10.1111/liv.12920. [Epub ahead of print]

Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB. Conlin LK Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A. 2015 Dec;167(12):3091-5. doi: 10.1002/ajmg.a.37261. Epub 2015 Jul 21.

Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB. Wilfond, B. S.,  McInerney, J. D.: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet 97(1): 6-21, Jul 2015.

Tsai EA, Grochowski CM, Falsey AM, Rajagopalan R, Wendel D, Devoto M, Krantz ID, Loomes KM, Spinner NB. Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Hum Mutat 36(6): 631-7, Jun 2015.

Grochowski CM, Rajagopalan R, Falsey AM, Loomes KM, Piccoli DA, Krantz ID, Devoto M, Spinner NB. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. Am J Med Genet A 167a(4): 891-3, Apr 2015.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett J T, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik E R, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X,  Crooks K, Kiedrowski LA, Raffel L J, Gordon O, Machini K, Desnick R J, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ,  Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD,  Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25(3): 305-15, March 2015.

Baird LC, Smith ER, Ichord R, Piccoli DA, Bernard TJ, Spinner NB, Scott RM, Kamath BM. Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization. J Pediatr 166(2): 470-3, Feb 2015.


Tsai EA, Grochowski CM, Loomes KM, Bessho K, Hakonarson H, Bezerra JA, Russo PA, Haber BA, Spinner NB, Devoto M. Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet 133(2): 235-43, 2014.

Salas-Labadia C, Cervantes-Barragan DE, Cruz-Alcivar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Duran-McKinster C, Davila-Ortiz de Montellano D J, Del Castillo-Ruiz V,  Perez-Vera P. Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. Am J Med Genet A 164A(7): 1765-9, 2014.

Reiff M, Mueller R, Mulchandani S, Spinner NB, Pyeritz RE, Bernhardt BA. A qualitative study of healthcare providers'' perspectives on the implications of genome-wide testing in pediatric clinical practice. J Genet Couns 23(4): 474-88, 2014.

Ng VL, Haber BH, Magee JC, Miethke A, Murray KF, Michail S, Karpen SJ, Kerkar N, Molleston JP, Romero R, Rosenthal P, Schwarz KB, Shneider BL, Turmelle YP, Alonso EM, Sherker AH,  Sokol RJ, Childhood Liver Disease, Research,  Education, Network. Medical status of 219 children with biliary atresia surviving long-term with their native livers: results from a North American multicenter consortium. J Pediatr 165(3): 539-546 e2, 2014.

Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinformatics. 2014 Jul 21;15:248. doi: 10.1186/1471-2105-15-248.

Lin H, Zoll B, Russo P, Spinner NB, Loomes KM. A challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome. J Pediatr Gastroenterol Nutr. 2014 Sep 8. [Epub ahead of print]

Leonard LD, Chao G, Baker A, Loomes K, Spinner NB. Clinical utility gene card for: Alagille Syndrome (ALGS). Eur J Hum Genet 22(3), 2014.

Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID. Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. PLoS One 9(10): e108853, 2014.

Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows C A, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, e, Merge Act- R. O. R. Committee, Cerc Committee, Cser Act-ROR Working Group, Burke W. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet 94(6): 818-26, 2014.

Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. Am J Med Genet A 164A(7): 1659-65, 2014.

Ng VL, Haber BH, Magee JC, Miethke A, Murray KF, Michail S, Karpen SJ, Kerkar N, Molleston JP, Romero R., Rosenthal P, Schwarz KB, Shneider BL,Turmelle YP, Alonso EM, Sherker AH, Sokol RJ. Medical status of 219 children with biliary atresia surviving long-term with their native livers: results from a North American multicenter consortium. J Pediatr. 2014 Sep;165(3):539-546.e2. doi: 10.1016/j.jpeds.2014.05.038. Epub 2014 Jul 9.

Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, Burke W. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8.


Izumi, K,  Santani, AB,  Deardorff, MA,  Feret, HA,  Tischler, T,  Thiel, BD,  Mulchandani, S,  Stolle, CA,  Spinner, NB,  Zackai, EH,  Conlin, LK: Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. Am J Med Genet A 161A(1): 166-71, Jan 2013.

Reiff, M,  Ross, K,  Mulchandani, S,  Propert, KJ,  Pyeritz, RE,  Spinner, NB,  Bernhardt, BA: Physicians'' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet 83(1): 23-30, Jan 2013.

Cui, S,  Leyva-Vega, M,  Tsai, EA,  EauClaire, SF,  Glessner, JT,  Hakonarson, H,  Devoto, M,  Haber, BA,  Spinner, NB,  Matthews, RP: Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. Gastroenterology 144(5): 1107-1115 e3, May 2013.

Kalish, JM,  Conlin, LK,  Mostoufi-Moab, S,  Wilkens, AB,  Mulchandani, S,  Zelley, K,  Kowalski, M,  Bhatti, TR,  Russo, P,  Mattei, P,  Mackenzie, WG,  LiVolsi, V,  Nichols, KE,  Biegel, JA,  Spinner, NB,  Deardorff, MA: Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A 161A(5): 993-1001, May 2013.

Shackelford, AL,  Conlin, LK,  Hummel, M,  Spinner, NB,  Wenger, SL: Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood. Case Rep Genet 2013: 857926, July 2013 Notes:

Kalish, JM,  Conlin, LK,  Bhatti, TR,  Dubbs, HA,  Harris, MC,  Izumi, K,  Mostoufi-Moab, S,  Mulchandani, S,  Saitta, S,  States, LJ,  Swarr, DT,  Wilkens, AB,  Zackai, EH,  Zelley, K,  Bartolomei, MS,  Nichols, KE,  Palladino, AA,  Spinner, NB,  Deardorff, MA: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A 161A(8): 1929-39, Aug 2013.

Shah, S,  Conlin, LK,  Gomez, L,  Aagenaes, O,  Eiklid, K,  Knisely, AS,  Mennuti, MT,  Matthews, RP,  Spinner, NB,  Bull, LN: CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One 8(9): e75770, Sept 26 2013.

Tsai, EA,  Berman, MA,  Conlin, LK,  Rehm, HL,  Francey, LJ,  Deardorff, MA,  Holst, J,  Kaur, M,  Gallant, E,  Clark, DM,  Glessner, JT,  Jensen, ST,  Grant, SF,  Gruber, PJ,  Hakonarson, H,  Spinner, NB,  Krantz, ID: PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A 161A(9): 2134-47, Sep 2013.

Balsara, SL,  Faerber, JA,  Spinner, NB,  Feudtner, C: Pediatric mortality in males versus females in the United States, 1999-2008. Pediatrics 132(4): 631-8, Oct 2013.


Kamath, BM,  Podkameni, G,  Hutchinson, AL,  Leonard, LD,  Gerfen, J,  Krantz, ID,  Piccoli, DA,  Spinner, NB,  Loomes, KM,  Meyers, K: Renal anomalies in Alagille syndrome: a disease-defining feature. Am J Med Genet A 158A(1): 85-9, Jan 2012.

Francey, LJ,  Conlin, LK,  Kadesch, HE,  Clark, D,  Berrodin, D,  Sun, Y,  Glessner, J,  Hakonarson, H,  Jalas, C,  Landau, C,  Spinner, NB,  Kenna, M,  Sagi, M,  Rehm, HL,  Krantz, ID: Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A 158A(2): 298-308, Feb 2012.

Kamath, BM,  Bauer, RC,  Loomes, KM,  Chao, G,  Gerfen, J,  Hutchinson, A,  Hardikar, W,  Hirschfield, G,  Jara, P,  Krantz, ID,  Lapunzina, P,  Leonard, L,  Ling, S,  Ng, VL,  Hoang, PL,  Piccoli, DA,  Spinner, NB: NOTCH2 mutations in Alagille syndrome. J Med Genet 49(2): 138-44, Feb 2012.

Reiff, M,  Bernhardt, BA,  Mulchandani, S,  Soucier, D,  Cornell, D,  Pyeritz, RE,  Spinner, NB: "What does it mean?": uncertainties in understanding results of chromosomal microarray testing. Genet Med 14(2): 250-8, Feb 2012.

Daber, RD,  Conlin, LK,  Leonard, LD,  Canevini, MP,  Vignoli, A,  Hosain, S,  Brown, LW,  Spinner, NB: Ring Chromosome 20. Eur J Med Genet 55(5): 381-7, May 2012.

Lin, HC,  Le Hoang, P,  Hutchinson, A,  Chao, G,  Gerfen, J,  Loomes, KM,  Krantz, I,  Kamath, BM,  Spinner, NB: Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. Am J Med Genet A 158A(5): 1005-13, May 2012.

Penton, AL,  Leonard, LD,  Spinner, NB: Notch signaling in human development and disease. Semin Cell Dev Biol 23(4): 450-7, Jun 2012.

DeScipio, C,  Conlin, L,  Rosenfeld, J,  Tepperberg, J,  Pasion, R,  Patel, A,  McDonald, MT,  Aradhya, S,  Ho, D,  Goldstein, J,  McGuire, M,  Mulchandani, S,  Medne, L,  Rupps, R,  Serrano, AH,  Thorland, EC,  Tsai, AC,  Hilhorst-Hofstee, Y,  Ruivenkamp, CA,  Van Esch, H,  Addor, MC,  Martinet, D,  Mason, TB,  Clark, D,  Spinner, NB,  Krantz, ID: Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. Am J Med Genet A 158A(9): 2152-61, Sep 2012.Conlin, LK,  Kaur, M,  Izumi, K,  Campbell, L,  Wilkens, A,  Clark, D,  Deardorff, MA,  Zackai, EH,  Pallister, P,  Hakonarson, H,  Spinner, NB,  Krantz, ID: Utility of SNP arrays in detecting, quantifying, and determining meiotic or

igin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A 158A(12): 3046-53, Dec 2012.

Hosain, SA, Conlin, LK, Spinner, NB: Ring Chromosome 20 Epilepsy Syndrome: An overview. J Pediatr Epilepsy 1(1): 5-10, 2012 Notes: 10.3233/PEP-2012-003.

Izumi, K,  Conlin, LK,  Berrodin, D,  Fincher, C,  Wilkens, A,  Haldeman-Englert, C,  Saitta, SC,  Zackai, EH,  Spinner, NB,  Krantz, ID: Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A 158A(12): 3033-45, Dec 2012.


Conlin, LK,  Kramer, W,  Hutchinson, AL,  Li, X,  Riethman, H,  Hakonarson, H,  Mulley, JC,  Scheffer, IE,  Berkovic, SF,  Hosain, SA,  Spinner, NB: Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet 48(1): 1-9, Jan 2011.

Foley, AR, Hu, Y, Zou, Y, Yang, M, Medne, L, Leach, M, Conlin, LK, Spinner, NB, Shaikh, TH, Falk. M, Neumeyer, AM, Bliss, L, Tseng, BS, Winder, TL, Bonnemann, CG: Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy. Ann Neurol 69(1): 206-11, Jan 2011.

Leyva-Vega, M, Weiss, PF, Ganesh, J, Conlin, L, Spinner, NB, Matthews, RP: Significant liver disease in a patient with Y116H mutation in the MVK gene. Am J Med Genet A. 155(6), June 2011.

Daber, RD, Chapman, KA, Ruchelli, E, Kasperski, S, Mulchandani, M, Thiel, BD, Hakonarson, H, Zackai, EH, Conlin, LK, Spinner, NB: Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation. Am J Med Genet 155A(10): 2489-95, October 2011.

Guilherme, RS,  Meloni, VF,  Kim, CA,  Pellegrino, R,  Takeno, SS,  Spinner, NB,  Conlin, LK,  Christofolini, DM,  Kulikowski, LD,  Melaragno, MI: Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet 12: 171, Dec 21 2011.

Izumi, K,  Mikesell, H,  Daber, R,  Chao, G,  Hutchinson, AL,  Spinner, NB,  Parikh, AS: 8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities. Am J Med Genet A 155A(12): 3148-52, Dec 2011.2


Haldeman-Englert, CR,  Chapman, KA,  Kruger, H,  Geiger, EA,  McDonald-McGinn, DM,  Rappaport, E,  Zackai, EH,  Spinner, NB,  Shaikh, TH: A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A 152A(1): 196-202, Jan 2010.

Youngs, EL,  McCord, T,  Hellings, JA,  Spinner, NB,  Schneider, A,  Butler, MG: An 18-year follow-up report on an infant with a duplication of 9q34. Am J Med Genet A 152A(1): 230-3, Jan 2010.

Descipio, C,  Morrissette, JD,  Conlin, LK,  Clark, D,  Kaur, M,  Coplan, J,  Riethman, H,  Spinner, NB,  Krantz, ID: Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. Am J Med Genet A 152A(2): 373-82, Feb 2010.

Li, F,  Shen, Y,  Kohler, U,  Sharkey, FH,  Menon, D,  Coulleaux, L,  Malan, V,  Rio, M,  McMullan, DJ,  Cox, H,  Fagan, KA,  Gaunt, L,  Metcalfe, K,  Heinrich, U,  Hislop, G,  Maye, U,  Sutcliffe, M,  Wu, BL,  Thiel, BD,  Mulchandani, S,  Conlin, LK,  Spinner, NB,  Murphy, KM,  Batista, DA: Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? Eur J Med Genet 53(2): 93-9, Mar-Apr 2010.

Conlin, LK,  Thiel, BD,  Bonnemann, CG,  Medne, L,  Ernst, LM,  Zackai, EH,  Deardorff, MA,  Krantz, ID,  Hakonarson, H,  Spinner, NB: Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 19(7): 1263-75, Apr 1 2010.

Leyva-Vega, M,  Gerfen, J,  Thiel, BD,  Jurkiewicz, D,  Rand, EB,  Pawlowska, J,  Kaminska, D,  Russo, P,  Gai, X,  Krantz, ID,  Kamath, BM,  Hakonarson, H,  Haber, BA,  Spinner, NB: Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. Am J Med Genet A 152A(4): 886-95, Apr 2010.

Bauer, RC,  Laney, AO,  Smith, R,  Gerfen, J,  Morrissette, JJ,  Woyciechowski, S,  Garbarini, J,  Loomes, KM,  Krantz, ID,  Urban, Z,  Gelb, BD,  Goldmuntz, E,  Spinner, NB: Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat 31(5): 594-601, May 2010.

Crowley, MA,  Conlin, LK,  Zackai, EH,  Deardorff, MA,  Thiel, BD,  Spinner, NB: Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A 152A(5): 1326-7, May 2010.

Kamath, BM,  Munoz, PS,  Bab, N,  Baker, A,  Chen, Z,  Spinner, NB,  Piccoli, DA: A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome. J Pediatr Gastroenterol Nutr 50(5): 526-30, May 2010

Miller, DT,  Adam, MP,  Aradhya, S,  Biesecker, LG,  Brothman, AR,  Carter, NP,  Church, DM,  Crolla, JA,  Eichler, EE,  Epstein, CJ,  Faucett, WA,  Feuk, L,  Friedman, JM,  Hamosh, A,  Jackson, L,  Kaminsky, EB,  Kok, K,  Krantz, ID,  Kuhn, RM,  Lee, C,  Ostell, JM,  Rosenberg, C,  Scherer, SW,  Spinner, NB,  Stavropoulos, DJ,  Tepperberg, JH,  Thorland, EC,  Vermeesch, JR,  Waggoner, DJ,  Watson, MS,  Martin, CL,  Ledbetter, DH: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5): 749-64, May 14 2010.

Descipio, C,  Morrissette, JD,  Conlin, LK,  Clark, D,  Kaur, M,  Coplan, J,  Riethman, H,  Spinner, NB,  Krantz, ID: Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20" Am J Med Genet A 152A(6): 1599, Jun 2010.

Bales, CB,  Kamath, BM,  Munoz, PS,  Nguyen, A,  Piccoli, DA,  Spinner, NB,  Horn, D,  Shults, J,  Leonard, MB,  Grimberg, A,  Loomes, KM: Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr 51(1): 66-70, Jul 2010.

Kaye, AJ,  Rand, EB,  Munoz, PS,  Spinner, NB,  Flake, AW,  Kamath, BM: Effect of Kasai procedure on hepatic outcome in Alagille syndrome. J Pediatr Gastroenterol Nutr 51(3): 319-21, Sep 2010.

Liu, J,  Zhang, Z,  Bando, M,  Itoh, T,  Deardorff, MA,  Li, JR,  Clark, D,  Kaur, M,  Tatsuro, K,  Kline, AD,  Chang, C,  Vega, H,  Jackson, LG,  Spinner, NB,  Shirahige, K,  Krantz, ID: Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res 38(17): 5657-71, Sep 2010.

Sampson, MG,  Coughlin, CR 2nd,  Kaplan, P,  Conlin, LK,  Meyers, KE,  Zackai, EH,  Spinner, NB,  Copelovitch, L: Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A 152A(10): 2618-22, Oct 2010.

Guilherme, RS,  de Freitas Ayres Meloni, V,  Sodre, CP,  Christofolini, DM,  Pellegrino, R,  de Mello, CB,  Conlin, LK,  Hutchinson, AL,  Spinner, NB,  Brunoni, D,  Kulikowski, LD, Melaragno, MI: Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14. Am J Med Genet A 152A(11): 2865-9, Nov 2010.


Kamath, BM,  Thiel, BD,  Gai, X,  Conlin, LK,  Munoz, PS,  Glessner, J,  Clark, D,  Warthen, DM,  Shaikh, TH,  Mihci, E,  Piccoli, DA,  Grant, SF,  Hakonarson, H,  Krantz, ID,  Spinner, NB: SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat 30(3): 371-8, Mar 2009.

Liu, J,  Zhang, Z,  Bando, M,  Itoh, T,  Deardorff, MA,  Clark, D,  Kaur, M,  Tandy, S,  Kondoh, T,  Rappaport, E,  Spinner, NB,  Vega, H,  Jackson, LG,  Shirahige, K,  Krantz, ID: Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 7(5): e1000119, May 5 2009.

Shaikh, TH,  Gai, X,  Perin, JC,  Glessner, JT,  Xie, H,  Murphy, K,  O'Hara, R,  Casalunovo, T,  Conlin, LK,  D'Arcy, M,  Frackelton, EC,  Geiger, EA,  Haldeman-Englert, C,  Imielinski, M,  Kim, CE,  Medne, L,  Annaiah, K,  Bradfield, JP,  Dabaghyan, E,  Eckert, A,  Onyiah, CC,  Ostapenko, S,  Otieno, FG,  Santa, E,  Shaner, JL,  Skraban, R,  Smith, RM,  Elia, J,  Goldmuntz, E,  Spinner, NB,  Zackai, EH,  Chiavacci, RM,  Grundmeier, R,  Rappaport, EF,  Grant, SF,  White, PS,  Hakonarson, H: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19(9): 1682-90, Sep 2009.

McCarthy, SE, Makarov, V, Kirov, G, Addington, AM, McClellan, J, Yoon, S, Perkins, DO, Dickel, DE, Kusenda, M, Krastoshevsky, O, Krause, V, Kumar, RA, Grozeva, D, Malhotra, D, Walsh, T, Zackai, EH, Kaplan, P, Ganesh, J, Krantz, ID, Spinner, NB, Roccanova, P, Bhandari, A, Pavon, K, Lakshmi, B, Leotta, A, Kendall, J, Lee, YH, Vacic, V, Gary, S, Iakoucheva, LM, Crow, TJ, Christian, SL, Lieberman, JA, Stroup, TS, Lehtimaki, T, Puura, K, Haldeman-Englert, C, Pearl, J, Goodell, M, Willour, VL, Derosse, P, Steele, J, Kassem, L, Wolff, J, Chitkara, N, McMahon, FJ, Malhotra, AK, Potash, JB, Schulze, TG, Nothen, MM, Cichon, S, Rietschel, M, Leibenluft, E, Kustanovich, V, Lajonchere, CM, Sutcliffe, JS, Skuse, D, Gill, M, Gallagher, L, Mendell, NR, Wellcome Trust Case Control Consortium; Craddock, N, Owen, MJ, O'Donovan, MC, Shaikh, TH, Susser, E, Delisi, LE, Sullivan, PF, Deutsch, CK, Rapoport, J, Levy, DL, King, MC, Sebat, J: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41(11): 1223-7, Nov 2009.


DeScipio, C,  Spinner, NB,  Kaur, M,  Yaeger, D,  Conlin, LK,  Ambrosini, A,  Hu, S,  Shan, S,  Krantz, ID,  Riethman, H: Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. Am J Med Genet A 146A(6): 730-9, Mar 15 2008.

Spinner, NB,  Saitta, SC,  Delaney, DP,  Colliton, R,  Zderic, SA,  Ruchelli, E,  Zackai, E,  Kolon, TF: Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring. Am J Med Genet A 146A(14): 1828-31, Jul 15 2008.

Deardorff, MA,  Gaddipati, H,  Kaplan, P,  Sanchez-Lara, PA,  Sondheimer, N,  Spinner, NB,  Hakonarson, H,  Ficicioglu, C,  Ganesh, J,  Markello, T,  Loechelt, B,  Zand, DJ,  Yudkoff, M,  Lichter-Konecki, U: Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab 94(4): 498-502, Aug 2008.

Suhoski, MM,  Perez, EE,  Heltzer, ML,  Laney, A,  Shaffer, LG,  Saitta, S,  Nachman, S,  Spinner, NB,  June, CH,  Orange, JS: Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells. Clin Immunol 128(2): 181-9, Aug 2008.

Ryan, MJ,  Bales, C,  Nelson, A,  Gonzalez, DM,  Underkoffler, L,  Segalov, M,  Wilson-Rawls, J,  Cole, SE,  Moran, JL,  Russo, P,  Spinner, NB,  Kusumi, K,  Loomes, KM: Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype. Hepatology 48(6): 1989-97, Dec 2008.


Ernst, LM,  Spinner, NB,  Piccoli, DA,  Mauger, J,  Russo, P: Interlobular bile duct loss in pediatric cholestatic disease is associated with aberrant cytokeratin 7 expression by hepatocytes. Pediatr Dev Pathol 10(5): 383-90, Sept-Oct 2007.

Krantz, ID,  Spinner, NB: Novel microdeletion syndromes. Am J Med Genet C Semin Med Genet 145C(4): 323-6, Nov 15 2007.


Sousa, AB,  Medeira, A,  Kamath, BM,  Spinner, NB,  Cordeiro, I: Familial stenosis of the pulmonary artery branches with a JAG1 mutation. Rev Port Cardiol 25(4): 447-52, Apr 2006.

Warthen, DM,  Moore, EC,  Kamath, BM,  Morrissette, JJ,  Sanchez-Lara, PA,  Piccoli, DA,  Krantz, ID,  Spinner, NB: Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat 27(5): 436-43, May 2006.

McDaniell, R,  Warthen, DM,  Sanchez-Lara, PA,  Pai, A,  Krantz, ID,  Piccoli, DA,  Spinner, NB: NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 79(1): 169-73, Jul 2006.

Goldmuntz, E,  Moore, E,  Spinner, NB: The cardiovascular manifestations of Alagille syndrome and JAGI mutations. Methods Mol Med 126: 217-31, 2006 Notes: Full citation not found.


Descipio, C,  Schneider, L,  Young, TL,  Wasserman, N,  Yaeger, D,  Lu, F,  Wheeler, PG,  Williams, MS,  Bason, L,  Jukofsky, L,  Menon, A,  Geschwindt, R,  Chudley, AE,  Saraiva, J,  Schinzel, AA,  Guichet, A,  Dobyns, WE,  Toutain, A,  Spinner, NB,  Krantz, ID: Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A 134A(1): 3-11, Apr 1 2005.

Libbrecht, L,  Spinner, NB,  Moore, EC,  Cassiman, D,  Van Damme-Lombaerts, R,  Roskams, T: Peripheral bile duct paucity and cholestasis in the liver of a patient with Alagille syndrome: further evidence supporting a lack of postnatal bile duct branching and elongation. Am J Surg Pathol 29(6): 820-6, Jun 2005.

Emerick, KM,  Krantz, ID,  Kamath, BM,  Darling, C,  Burrowes, DM,  Spinner, NB,  Whitington, PF,  Piccoli, DA: Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr 41(1): 99-107, Jul 2005.

Morrissette, JJ,  Medne, L,  Bentley, T,  Owens, NL,  Geiger, E, Pipan, M,  Zackai, EH,  Shaikh, T,  Spinner, NB: A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage. Am J Med Genet A 137(2): 208-12, Aug 30 2005.

DeScipio, C,  Kaur, M,  Yaeger, D,  Innis, JW,  Spinner, NB,  Jackson, LG,  Krantz, ID: Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A 137A(3): 276-82, Sep 1 2005.

Kaur, M,  DeScipio, C,  McCallum, J,  Yaeger, D,  Devoto, M,  Jackson, LG,  Spinner, NB,  Krantz, ID: Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet A 138(1): 27-31, Sep 15 2005.

DeBerardinis, RJ,  Medne, L,  Spinner, NB,  Zackai, EH: DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. Am J Med Genet A 138A(2): 155-9, Oct 1 2005.


Venditti, CP,  Hunt, P,  Donnenfeld, A,  Zackai, E,  Spinner, NB: Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet A 124A(3): 274-9, Jan 30 2004.

Kamath, BM,  Spinner, NB,  Emerick, KM,  Chudley, AE,  Booth, C,  Piccoli, DA,  Krantz, ID: Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 109(11): 1354-8, Mar 23 2004.

Stewart, DR,  Huang, A,  Faravelli, F,  Anderlid, BM,  Medne, L,  Ciprero, K,  Kaur, M,  Rossi, E,  Tenconi, R,  Nordenskjold, M,  Gripp, KW,  Nicholson, L,  Meschino, WS,  Capua, E,  Quarrell, OW,  Flint, J,  Irons, M,  Giampietro, PF,  Schowalter, DB,  Zaleski, CA,  Malacarne, M,  Zackai, EH,  Spinner, NB,  Krantz, ID: Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A 128A(4): 340-51, Aug 1 2004.

Kamath, BM,  Loomes, KM,  Piccoli, DA,  Emerick, IE,  Oakey, RJ,  Spinner, NB,  Krantz, ID: Reply to correspondence from Sokol. Am J Med Genet A  124A(2): 222-223, 2004 Notes: doi:10.1002/ajmg.a.20336.


Lu, F,  Morrissette, JJ,  Spinner, NB: Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Am J Hum Genet 72(4): 1065-70, Apr 2003.

Xu, W,  Robert, C,  Thornton, PS,  Spinner, NB: Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report. Am J Med Genet A 120A(3): 434-6, Jul 30 2003.

Kamath, BM,  Bason, L,  Piccoli, DA,  Krantz, ID,  Spinner, NB: Consequences of JAG1 mutations. J Med Genet 40(12): 891-5, Dec 2003.

Morrissette, JJ,  Laufer-Cahana, A,  Medne, L,  Russell, KL,  Venditti, CP,  Kline, R,  Zackai, EH,  Spinner, NB: Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9. Am J Med Genet A 123A(3): 279-84, Dec 15 2003.


Gao, GP,  Lu, F,  Sanmiguel, JC,  Tran, PT,  Abbas, Z,  Lynd, KS,  Marsh, J,  Spinner, NB,  Wilson, JM: Rep/Cap gene amplification and high-yield production of AAV in an A549 cell line expressing Rep/Cap. Mol Ther 5(5 Pt 1): 644-9, May 2002.

Kamath, BM,  Krantz, ID,  Spinner, NB,  Heubi, JE,  Piccoli, DA: Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. Am J Med Genet 112(2): 194-7, Oct 1 2002.

Kamath, BM,  Loomes, KM,  Oakey, RJ,  Emerick, KE,  Conversano, T,  Spinner, NB,  Piccoli, DA,  Krantz, ID: Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet 112(2): 163-70, Oct 1 2002.

Kamath, BM,  Stolle, C,  Bason, L,  Colliton, RP,  Piccoli, DA,  Spinner, NB,  Krantz, ID: Craniosynostosis in Alagille syndrome. Am J Med Genet 112(2): 176-80, Oct 1 2002.

Laufer-Cahana, A,  Krantz, ID,  Bason, LD,  Lu, FM,  Piccoli, DA,  Spinner, NB: Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion. Am J Med Genet 112(2): 190-3, Oct 1 2002.

McElhinney, DB,  Krantz, ID,  Bason, L,  Piccoli, DA,  Emerick, KM,  Spinner, NB,  Goldmuntz, E: Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106(20): 2567-74, Nov 12 2002.


Colliton, RP,  Bason, L,  Lu, FM,  Piccoli, DA,  Krantz, ID,  Spinner, NB: Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mutat 17(2): 151-2, Feb 2001.

Morrissette, JD,  Celle, L,  Owens, NL,  Shields, CL,  Zackai, EH,  Spinner, NB: Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. Am J Med Genet 99(1): 21-8, Feb 15 2001.

Morrissette, JD,  Colliton, RP,  Spinner, NB: Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. Hum Mol Genet 10(4): 405-13, Feb 15 2001.

Barlow, GM,  Chen, XN,  Shi, ZY,  Lyons, GE,  Kurnit, DM,  Celle, L,  Spinner, NB,  Zackai, E,  Pettenati, MJ,  Van Riper, AJ,  Vekemans, MJ,  Mjaatvedt, CH,  Korenberg, JR: Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med 3(2): 91-101, Mar-Apr 2001.

Piccoli, DA,  Spinner, NB: Alagille syndrome and the Jagged1 gene. Semin Liver Dis 21(4): 525-34, Nov 2001.

Spinner, NB,  Colliton, RP,  Crosnier, C,  Krantz, ID,  Hadchouel, M,  Meunier-Rotival, M: Jagged1 Mutations in Alagille Syndrome. Hum Mutat 17(1): 18-33, 2001.


Spinner, NB: CADASIL: Notch signaling defect or protein accumulation problem? J Clin Invest 105(5): 561-2, Mar 2000.

Ming, JE,  Blagowidow, N,  Knoll, JH,  Rollings, L,  Fortina, P,  McDonald-McGinn, DM,  Spinner, NB,  Zackai, EH: Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. Am J Med Genet 92(1): 19-24, May 1 2000.

Ozoren, N,  Fisher, MJ,  Kim, K,  Liu, CX,  Genin, A,  Shifman, Y,  Dicker, DT,  Spinner, NB,  Lisitsyn, NA,  El-Deiry, WS: Homozygous deletion of the death receptor DR4 gene in a nasopharyngeal cancer cell line is associated with TRAIL resistance. Int J Oncol 16(5): 917-25, May 2000.

Warburton, PE,  Dolled, M,  Mahmood, R,  Alonso, A,  Li, S,  Naritomi, K,  Tohma, T,  Nagai, T,  Hasegawa, T,  Ohashi, H,  Govaerts, LC,  Eussen, BH,  Van Hemel, JO,  Lozzio, C,  Schwartz, S,  Dowhanick-Morrissette, JJ,  Spinner, NB,  Rivera, H,  Crolla, JA,  Yu, C,  Warburton, D: Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am J Hum Genet 66(6): 1794-806, Jun 2000.

Hodes, ME,  Woodward, K,  Spinner, NB,  Emanuel, BS,  Enrico-Simon, A,  Kamholz, J,  Stambolian, D,  Zackai, EH,  Pratt, VM,  Thomas, IT,  Crandall, K,  Dlouhy, SR,  Malcolm, S: Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. Am J Hum Genet 67(1): 14-22, Jul 2000.

Anbari, KK, Ierardi-Curto, LA, Silber, JS, Asada, N, Spinner, NB, Belasco, J, Dormans, JP: Two primary osteosarcomas in a patient with Rothund-Thomsom syndrome. Clin Orthop 378: 213-23, Sep 2000.

Heritage, ML,  MacMillan, JC,  Colliton, RP,  Genin, A,  Spinner, NB,  Anderson, GJ: Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. Hum Mutat 16(5): 408-16, Nov 2000.


Gecz, J,  Baker, E,  Donnelly, A,  Ming, JE,  McDonald-McGinn, DM,  Spinner, NB,  Zackai, EH,  Sutherland, GR,  Mulley, JC: Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Hum Genet 104(1): 56-63, Jan 1999.

Emerick, KM,  Rand, EB,  Goldmuntz, E,  Krantz, ID,  Spinner, NB,  Piccoli, DA: Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29(3): 822-9, Mar 1999.

Ordentlich, P,  Downes, M,  Xie, W,  Genin, A,  Spinner, NB,  Evans, RM: Unique forms of human and mouse nuclear receptor corepressor SMRT. Proc Natl Acad Sci U S A 96(6): 2639-44, Mar 16 1999.

Krantz, ID,  Smith, R,  Colliton, RP,  Tinkel, H,  Zackai, EH,  Piccoli, DA,  Goldmuntz, E,  Spinner, NB: Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 84(1): 56-60, May 7 1999.

Spinner, NB: Alagille syndrome and the notch signaling pathway: new insights into human development. Gastroenterology 116(5): 1257-60, May 1999.

Felix, CA,  Hosler, MR,  Slater, DJ,  Megonigal, MD,  Lovett, BD,  Williams, TM,  Nowell, PC,  Spinner, NB,  Owens, NL,  Hoxie, J,  Croce, CM,  Lange, BJ,  Rappaport, EF: Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints. Mol Diagn 4(4): 269-83, Dec 1999.

Krantz, ID,  Piccoli, DA,  Spinner, NB: Clinical and molecular genetics of Alagille syndrome. Curr Opin Pediatr 11(6): 558-64, Dec 1999.

Loomes, KM,  Underkoffler, LA,  Morabito, J,  Gottlieb, S,  Piccoli, DA,  Spinner, NB,  Baldwin, HS,  Oakey, RJ: The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum Mol Genet 8(13): 2443-9, Dec 1999.


Seidner, G,  Alvarez, MG,  Yeh, JI,  O'Driscoll, KR,  Klepper, J,  Stump, TS,  Wang, D,  Spinner, NB,  Birnbaum, MJ,  De Vivo, DC: GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 18(2): 188-91, Feb 1998.

Krantz, ID,  Colliton, RP,  Genin, A,  Rand, EB,  Li, L,  Piccoli, DA,  Spinner, NB: Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet 62(6): 1361-9, Jun 1998.

Peng, Y,  Genin, A,  Spinner, NB,  Diamond, RH,  Taub, R: The gene encoding human nuclear protein tyrosine phosphatase, PRL-1. Cloning, chromosomal localization, and identification of an intron enhancer. J Biol Chem 273(27): 17286-95, Jul 3 1998.

Shore, EM,  Xu, M,  Shah, PB,  Janoff, HB,  Hahn, GV,  Deardorff, MA,  Sovinsky, L,  Spinner, NB,  Zasloff, MA,  Wozney, JM,  Kaplan, FS: The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation. Calcif Tissue Int 63(3): 221-9, Sep 1998.


Krantz, ID,  Piccoli, DA,  Spinner, NB: Alagille syndrome. J Med Genet 34(2): 152-7, Feb 1997.

Zimmerman, J. E.,  Bui, Q. T.,  Steingrimsson, E.,  Nagle, D. L.,  Fu, W.,  Genin, A.,  Spinner, N. B.,  Copeland, N. G.,  Jenkins, N. A.,  Bucan, M.,  Bonini, N. M.: Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. Genome Res 7(2): 128-41, Feb 1997.

Krantz, ID,  Rand, EB,  Genin, A,  Hunt, P,  Jones, M,  Louis, AA,  Graham Jr, JM,  Bhatt, S,  Piccoli, DA,  Spinner, NB: Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am J Med Genet 70(1): 80-6, May 2 1997.

Li, L,  Krantz, ID,  Deng, Y,  Genin, A,  Banta, AB,  Collins, CC,  Qi, M,  Trask, BJ,  Kuo, WL,  Cochran, J,  Costa, T,  Pierpont, ME,  Rand, EB,  Piccoli, DA,  Hood, L,  Spinner, NB: Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16(3): 243-51, Jul 1997.

Oda, T,  Elkahloun, AG,  Pike, BL,  Okajima, K,  Krantz, ID,  Genin, A,  Piccoli, DA,  Meltzer, PS,  Spinner, NB,  Collins, FS,  Chandrasekharappa, SC: Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16(3): 235-42, Jul 1997.

Peng, Y,  Schwarz, EJ,  Lazar, MA,  Genin, A,  Spinner, NB,  Taub, R: Cloning, human chromosomal assignment, and adipose and hepatic expression of the CL-6/INSIG1 gene. Genomics 43(3): 278-84, Aug 1 1997.

Ryan, S. G.,  Chance, P. F.,  Zou, C. H.,  Spinner, N. B.,  Golden, J. A.,  Smietana, S.: Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet 17(1): 92-5, Sep 1997.

Wu, G. S.,  Burns, T. F.,  McDonald, E. R., 3rd,  Jiang, W.,  Meng, R.,  Krantz, I. D.,  Kao, G.,  Gan, D. D.,  Zhou, J. Y.,  Muschel, R.,  Hamilton, S. R.,  Spinner, N. B.,  Markowitz, S.,  Wu, G.,  el-Deiry, W. S.: KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene. Nat Genet 17(2): 141-3, Oct 1997.

Felix, CA,  Kim, CS,  Megonigal, MD,  Slater, DJ,  Jones, DH,  Spinner, NB,  Stump, T,  Hosler, MR,  Nowell, PC,  Lange, BJ,  Rappaport, EF: Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene. Blood 90(12): 4679-86, Dec 15 1997.

Wright, TJ, Ricke, DO, Denison, K, Abmayr, S, Cotter, PD, Hirschhorn, K, Keinanen, M, McDonald-McGinn, D, Somer, M, Spinner, N, Yang-Feng, T, Zackai, E, Altherr, M   : A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Molec Genet  6: 317-324, 1997.


Pellegrino, J. E.,  Pellegrino, L.,  Spinner, N. B.,  Sladky, J.,  Chance, P. F.,  Zackai, E. H.: Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. Am J Med Genet 61(4): 377-81, Feb 2 1996.

Pellegrino, J. E.,  Schnur, R. E.,  Boghosian-Sell, L.,  Strathdee, G.,  Overhauser, J.,  Spinner, N. B.,  Stump, T.,  Grace, K.,  Zackai, E. H.: Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. Hum Genet 97(4): 532-6, Apr 1996.

Basson, C. T.,  MacRae, C. A.,  Schoenberg-Fejzo, M.,  Morton, C. C.,  Spinner, N. B.,  Genin, A.,  Krug, E.,  Seidman, J. G.,  Seidman, C. E.: Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130. Genomics 35(3): 628-31, Aug 1 1996.

Bingham, P. M.,  Spinner, N. B.,  Sovinsky, L.,  Zackai, E. H.,  Chance, P. F.: Infantile spasms associated with proximal duplication of chromosome 15q. Pediatr Neurol 15(2): 163-5, Sep 1996.


Berry, G. T.,  Mallee, J. J.,  Kwon, H. M.,  Rim, J. S.,  Mulla, W. R.,  Muenke, M.,  Spinner, N. B.: The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Genomics 25(2): 507-13, Jan 20 1995.

Spinner, N. B.,  Grace, K. R.,  Owens, N. L.,  Sovinsky, L.,  Pellegrino, J. E.,  McDonald-McGinn, D.,  Zackai, E.: Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. Am J Med Genet 56(1): 22-4, Mar 13 1995.

Spinner, N. B.,  Zackai, E.,  Cheng, S. D.,  Knoll, J. H.: Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. Am J Med Genet 57(1): 61-5, May 22 1995.

Rand, E. B.,  Spinner, N. B.,  Piccoli, D. A.,  Whitington, P. F.,  Taub, R.: Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. Am J Hum Genet 57(5): 1068-73, Nov 1995.


Spinner, N. B.,  Rand, E. B.,  Fortina, P.,  Genin, A.,  Taub, R.,  Semeraro, A.,  Piccoli, D. A.: Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. Am J Hum Genet 55(2): 238-43, Aug 1994.

Cheng, S. D.,  Spinner, N. B.,  Zackai, E. H.,  Knoll, J. H.: Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55(4): 753-9, Oct 1994.

Lee, S. T.,  Nicholls, R. D.,  Schnur, R. E.,  Guida, L. C.,  Lu-Kuo, J.,  Spinner, N. B.,  Zackai, E. H.,  Spritz, R. A.: Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet 3(11): 2047-51, Nov 1994.


Spinner, N.B.,  Lucas, J.N.,  Poggensee, M.,  Jacquette, M.,  Schneider, A.: Duplication 9q34-->qter identified by chromosome painting. Am J Med Genet 45(5): 609-13, Mar 1 1993.

Spinner, N. B.,  Biegel, J. A.,  Sovinsky, L.,  McDonald-McGinn, D.,  Rehberg, K.,  Parmiter, A. H.,  Zackai, E. H.: 46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. Am J Med Genet 46(1): 95-7, Apr 1993.

McLean, S. D.,  Saal, H. M.,  Spinner, N. B.,  Emanuel, B. S.,  Driscoll, D. A.: Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. Am J Dis Child 147(11): 1212-6, Nov 1993.

Callen, D.F., Eyre, H., Lane, S., Shen, Y., Hansmann, I., Spinner, N., Zackai, E., McDonald-McGinn, D., Schuffenhauer, S., Wauters, J., Van Thienen, M-N., Van Roy, B., Sutherland, G.R., Haan, E.A.: High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. J Med Genet  30: 828-832, 1993.

Robin, N. H.,  Magnusson, M.,  McDonald-McGinn, D.,  Zackai, E. H.,  Spinner, N. B.: De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1). Clin Genet 44(6): 335-7, Dec 1993.

Schnur, R.E., Herzberg, A.J., Spinner, N., Kant, J.A., Magnusson, M., McDonald-McGinn, D., Rehberg, K., Honig, P.J., Zackai, E.H.: Variability in the Michelin tire syndrome. J Am Acad Dermat 28: 36, 1993.


Spinner, N. B.,  Gibas, Z.,  Kline, R.,  Berger, B.,  Jackson, L.: Placental mosaicism in a case of 46,XY,-22,+t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis. Prenat Diagn 12(1): 47-51, Jan 1992.

Ramos, F. J.,  Emanuel, B. S.,  Spinner, N. B.: Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome. Am J Med Genet 42(6): 835-8, Apr 1 1992.

Driscoll, D. A.,  Spinner, N. B.,  Budarf, M. L.,  McDonald-McGinn, D. M.,  Zackai, E. H.,  Goldberg, R. B.,  Shprintzen, R. J.,  Saal, H. M.,  Zonana, J.,  Jones, M. C.,  et al.,: Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44(2): 261-8, Sep 15 1992.

Danielson, K.G., McEldrew, D., Alston, J.T., Roling, B.D., Damjanov, A., Damjanov, I., Daskal, I. and Spinner, N.: Characterization of two new human colon carcinoma cell lines derived from the primary tumor site and corresponding lymph node metastasis. In Vitro Cellular & Developmental Biology  28A: 7-10, 1992.


Lazarus, A. L.,  Moore, K. E.,  Spinner, N. B.: Recurrent neuroleptic malignant syndrome associated with inv dup(15) and mental retardation. Clin Genet 39(1): 65-7, Jan 1991.

Jacky, P.B., Ahuja, Y.R., Anyane-Yeboa, K., Breg, W.R., Carpenter, N.J., Froster- Iskenius, U.G., Fryns, J-P., Gustavson, K-H., Hoegerman, S.F., Holmgren, G., Howard-Peebles, P.N., Jenkins, E.C., Neri, G., Pettigrew, A., Spinner, N., Steinbach, P., Vianna-Morgante, A.M., Watson, M.S., Wilmot, P.L. : Guidelines for the preparation and analysis of the fragile-X chromosome in lymphocytes. Am J Med Genet 38(2-3): 400-403, Feb-Mar 1991.

Spinner, N. B.,  Eunpu, D. L.,  Austria, J. R.,  Mamunes, P.: Holoprosencephaly in a newborn girl with 46,XX,i(18q). Am J Med Genet 39(1): 11-2, Apr 1 1991.


Lieberburg, I., Spinner, N.B., Snyder, S., Goldgaber, D., Smulowitz, M.,  Carroll, Z., Davies, P., Emanuel, B., Breitner, J., Rubin, L.    : Cloning of a cDNA encoding the rat high molecular weight neurofilament peptide (NF-H): Developmental and tissue expression in the rat, and mapping of its human homologue to chromosomes 1 and 22. Proc Natl Acad Sci USA 86(7):  2463-2467, Apr 1989.

Spinner, N. B.,  Eunpu, D. L.,  Schmickel, R. D.,  Zackai, E. H.,  McEldrew, D.,  Bunin, G. R.,  McDermid, H.,  Emanuel, B. S.: The role of cytologic NOR variants in the etiology of trisomy 21. Am J Hum Genet 44(5): 631-8, May 1989.


Spinner, N. B.,  Emanuel, B. S.,  Vonderheid, E. C.,  Nowell, P. C.: Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation. Cancer Genet Cytogenet 29(1): 159-64, Nov 1987.


Spinner, N. B.,  King, M. C.: Polymorphisms of mitochondrially encoded proteins. Am J Hum Genet 38(2): 159-69, Feb 1986.

Conley, M. E.,  Spinner, N. B.,  Emanuel, B. S.,  Nowell, P. C.,  Nichols, W. W.: A chromosomal breakage syndrome with profound immunodeficiency. Blood 67(5): 1251-6, May 1986.


King, M. C., Lee, G. M., Spinner, N. B., Thomson, G., Wrensch, M. R.: Genetic epidemiology. Annu Rev Public Health 5: 1-52, 1984 Notes: DOI: 10.1146/annurev.pu.05.050184.000245.




Kamath, B., Spinner, N., Piccoli, D.: Alagille Syndrome. Liver Disease in Children. Suchy, F.J., Sokol, R.J., Balistreri, W.F., Bezerra, J.A., Mack, C.L., Shneider, B.L. (eds.). Cambridge University Press, Page: 222, 2020.


Gilbert, M.A., Spinner, N.B.: Genetics of Alagille Syndrome. Alagille Syndrome: Pathogenesis and Clinical Management. Kamath, B.M., Loomes, K.M. (eds.). Springer International Publishing AG, Page: 33-48, 2018.


Spinner, N. B., Conlin, L. K.: Chromosome Disorders  Harrison's Principles of Internal Medicine. 19th edition. Kasper DL, Fauci AS, Longo DL, Hauser SL, Jameson JL, Loscalzo J (eds). (eds.). McGraw Hill, 2015.


Spinner, N.B.; Ferguson-Smith, M., Ledbetter, D.H.: Cytogenetic Analysis in Emery and Rimoin's Principles and Practice of Medical Genetics. Sixth Edition. Churchill Livingstone. Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H. (eds.). in the press, January 2012.

Spinner, N.B. : Chromosome Banding. Brenner's Online Encyclopedia Genetics, 2nd Edition. Elsevier Press, Oxford, UK, 2012.

Spinner, N. B.; Conlin, L. K.; Mulchandani, S. and Emanuel, B. S.: Deletions and Other Abnormalities of the Autosomes.  In Emery and Rimoin's Principles and Practice of Medical Genetics.  Sixth Edition. Churchill Livingstone. Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H. (eds.). (in the press, January 2012).


Spinner, N.B. & Krantz, I.D.: JAG1 and Alagille Syndrome in Molecular Basis of Inborn Errors of Development. Oxford University Press, New York. CJ Epstein, Erickson RP, Wynshaw-Boris A. (eds.). Oxford University Press, 2008.


Spinner, N.B., Saitta, S. and Emanuel, B.S.: Deletions and Other Abnormalities of the Autosomes.   In Emery and Rimoin's Principles and Practice of Medical Genetics. Fifth Edition. Ed. by Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H., (eds.). Churchill Livingstone.  Page: 1058-1082, 2007.

Spinner, N.B. & Krantz, I.D. : JAG1 and Alagille.  Molecular Basis of Inborn Errors of Development. CJ Epstein, Erickson RP, Wynshaw-Boris A.  (eds.). Oxford University Press, New York. (new edition), Page: in press, 2007.

Kamath, B.M., Spinner, N.B., Piccoli, D.A. : Alagille Syndrome.  Liver Disease in Children. Ed. Frederick J. Suchy (Third Edition) (eds.).  Cambridge University Press, Page: 326-345, 2007.


Spinner, N.B. & Krantz, I.D. : AG1 and Alagille Syndrome  in Molecular Basis of Inborn Errors of Development. Ed. CJ Epstein, Erickson RP, Wynshaw-Boris A. (eds.).  Oxford University Press, New York. Page: 461-469, 2004.


Spinner, N.B., Morrissette, J.J.D., Krantz, I.D. : "Jagged Genes."   Encyclopedia of Molecular Medicine. Ed. Thomas E. Creighton. (eds.). John Wiley & Sons, Inc. 2001.

Spinner, N.B. and Emanuel, B.S.: Deletions and Other Abnormalities of the Autosomes.    In Emery and Rimoin's Principles and Practice of Medical Genetics.   Ed. by Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H. (eds.). Churchill Livingstone, 2001.

Spinner, N.B. & Krantz, I.D.: JAG1 and Alagille Syndrome. in Molecular Basis of Inborn Errors of Development. Ed. CJ Epstein, Erickson RP, Wynshaw-Boris A.  (eds.). Oxford University Press, New York. (new edition), 2001.

Piccoli, D.A., Spinner, N.B.: "Alagille Syndrome and the Jagged1 Gene"    In: Seminars in Liver Disease. Ed. P D Berk, J A Bezerra, W F Balistreri. (eds.). 21: 525-534, 2001.

Loomes, K., Kusumi, K., Spinner, N.B. : "Notch Genes"  Encyclopedia of Molecular Medicine. Ed. Thomas E. Creighton  (eds.).  John Wiley & Sons, Inc. 2001.


Spinner, N.B. and Emanuel, B.S. : Deletions and Other Abnormalities of the Autosomes.     In Emery and Rimoin's Principles and Practice of Medical Genetics.  Ed. by Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H., (eds.). Churchill Livingstone. 1996.


Posters and Presentations

Lectures by Invitation


Spinner NB. "Genomic Technologies for Gene Discovery:  An Overview", American Association for the Study of Liver Disease (AASLD) Annual Meeting, Virtual. Nov 2021

Spinner NB. "Personalized IBD and VEO-IBD: Genomics Microbiome, Biologics and Beyond Symposium: The Power and Limitations of Genetic Testing in Children with VEO-IBD", The Children's Hospital of Philadelphia, Philadelphia, PA. Oct 2021.


Spinner NB. PANEL: "Shared biology: Increasing access to approved therapies for rare disease patients with shared biology through accurate diagnosis",  World Orphan Drug Congress USA 2020, Live Virtual Meeting. Aug 2020.


Spinner NB. "ALGS, Genetically Speaking", 8th International Symposium and Scientific Family Meeting on Alagille Syndrome, Cincinnati, OH. June 2019.

Spinner NB. "JAG1 and NOTCH2 mutations - location and function", 2nd Annual Alagille Syndrome Scientific Meeting, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. June 2019.

"Introduction to Genomics: Why it Matters for Diagnosis, Understanding and Treatment Development", RARE Drug Development Symposium, Global Genes and Penn Medicine Orphan Center, Philadelphia, PA. June 2019.

Awards and Honors

2015, Board of Scientific Counselors, National Institute on Deafness and Other Communication Disorders (NIDCD)
2011, Evelyn Willing Bromley Endowed Chair in Pediatric Pathology
2009, Faculty Mentor Award, The Children's Hospital of Philadelphia
2004, John Morgan Society, University of Pennsylvania School of Medicine
2002, Ethel Brown Foerderer Fund Fellow
1999, Klaus and Mary Hummeler Endowed Research Prize
1997, Dean's Award for Excellence in Basic Science Teaching, University of Pennsylvania School of Medicine
1997, University of Pennsylvania, Class of 2000, Excellence in Teaching Award
1996, University of Pennsylvania School of Medicine, Class of 1999, Excellence in Teaching Award
1995-1997, Ethel Brown Foerderer Fund Fellow, University of Pennsylvania School of Medicine, Class of 1999 Excellence in Teaching Award
1992-1993, Recipient Florence R.C. Murray Fellowship, University of Pennsylvania School of Medicine
1984-1985, Mary Elizabeth Rennie intramural award for research on epilepsy, University of California, Berkley
1972-1975, Dean's List, Brandeis University

Editorial and Academic Positions

Editorial Positions

2019-present, Deputy Managing Editor, Human Mutation
2007-present, Circulation Research
2002-present, European Journal of Human Genetics
2002-present, Genetics in Medicine
1997-present, Nature Genetics
1997-present, Human Molecular Genetics
1997-present, Molecular Diagnosis
Journal of Clinical Investigation
New England Journal of Medicine
1994-present, Human Genetics
American Journal of Medical Genetics
American Journal of Human Genetics

Academic and Institutional Committees

2019-present, Scientific Advisory Board, University of Pennsylvania Program in Genetic Counseling

Leadership and Memberships

Memberships in Professional Organizations

2006-present, Alagille Syndrome Alliance, Scientific Advisory Board
1993-present, American College of Medical Genetics, Founding Fellow
1980-present, American Society of Human Genetics
 - 2020-2023, Industry Engagement Talk Force (IETF)
 - 2019-2022, Chair, Membership Engagement Committee