Matthew A. Deardorff, MD, PhD

Matthew A. Deardorff, MD, PhD

Matthew A. Deardorff, MD, PhD, is an attending physician and Associate Medical Director of the Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia.

Areas of Expertise: Cancer susceptibility syndromes, Clinical genetics, Dysmorphology, Hand and foot abnormalities, Hip dysplasia, Limb deficiencies and deformities, Ossification disorders, Overgrowth syndromes, Short stature, Skeletal dysplasias, Skeletal syndromes, Undergrowth syndromes, 11p overgrowth associated with hypoglycemia
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - University of Pennsylvania School of Medicine, Philadelphia, Pa.

Residency

Pediatrics - Children's Hospital of Philadelphia, Philadelphia, PA

Fellowship

Genetics - Children's Hospital of Philadelphia & University of Pennsylvania, Philadelphia, PA

Board Certification

American Board of Medical Genetics/Clinical Genetics
American Board of Pediatrics

Graduate Degree

PhD in Cell and Molecular Biology - University of Pennsylvania School of Medicine, Philadelphia, PA

Titles and Academic Titles

Attending Physician, Clinical Genetics and Metabolism

Associate Medical Director, Roberts Individualized Medical Genetics Center

Associate Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Departments and Services

Research Interests

Cornelia de Lange syndrome
Developmental biology
Embryology
Limb formation
Skeletal syndromes
VATER/VACTERL Association

Publications

Papers

2017

Schoch Kelly, Meng Linyan, Szelinger Szabolcs, Bearden David R, Stray-Pedersen Asbjorg, Busk Oyvind L, Stong Nicholas, Liston Eriskay, Cohn Ronald D, Scaglia Fernando, Rosenfeld Jill A, Tarpinian Jennifer, Skraban Cara M, Deardorff Matthew A, Friedman Jeremy N, Akdemir Zeynep Coban, Walley Nicole, Mikati Mohamad A, Kranz Peter G, Jasien Joan, McConkie-Rosell Allyn, McDonald Marie, Wechsler Stephanie Burns, Freemark Michael, Kansagra Sujay, Freedman Sharon, Bali Deeksha, Millan Francisca, Bale Sherri, Nelson Stanley F, Lee Hane, Dorrani Naghmeh, Goldstein David B, Xiao Rui, Yang Yaping, Posey Jennifer E, Martinez-Agosto Julian A, Lupski James R, Wangler Michael F, Shashi Vandana: A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. American journal of human genetics 100(2): 343-351, Feb 2017.

Redin Claire, Brand Harrison, Collins Ryan L, Kammin Tammy, Mitchell Elyse, Hodge Jennelle C, Hanscom Carrie, Pillalamarri Vamsee, Seabra Catarina M, Abbott Mary-Alice, Abdul-Rahman Omar A, Aberg Erika, Adley Rhett, Alcaraz-Estrada Sofia L, Alkuraya Fowzan S, An Yu, Anderson Mary-Anne, Antolik Caroline, Anyane-Yeboa Kwame, Atkin Joan F, Bartell Tina, Bernstein Jonathan A, Beyer Elizabeth, Blumenthal Ian, Bongers Ernie M H F, Brilstra Eva H, Brown Chester W, Brüggenwirth Hennie T, Callewaert Bert, Chiang Colby, Corning Ken, Cox Helen, Cuppen Edwin, Currall Benjamin B, Cushing Tom, David Dezso, Deardorff Matthew A, Dheedene Annelies, D'Hooghe Marc, de Vries Bert B A, Earl Dawn L, Ferguson Heather L, Fisher Heather, FitzPatrick David R, Gerrol Pamela, Giachino Daniela, Glessner Joseph T, Gliem Troy, Grady Margo, Graham Brett H, Griffis Cristin, Gripp Karen W, Gropman Andrea L, Hanson-Kahn Andrea, Harris David J, Hayden Mark A, Hill Rosamund, Hochstenbach Ron, Hoffman Jodi D, Hopkin Robert J, Hubshman Monika W, Innes A Micheil, Irons Mira, Irving Melita, Jacobsen Jessie C, Janssens Sandra, Jewett Tamison, Johnson John P, Jongmans Marjolijn C, Kahler Stephen G, Koolen David A, Korzelius Jerome, Kroisel Peter M, Lacassie Yves, Lawless William, Lemyre Emmanuelle, Leppig Kathleen, Levin Alex V, Li Haibo, Li Hong, Liao Eric C, Lim Cynthia, Lose Edward J, Lucente Diane, Macera Michael J, Manavalan Poornima, Mandrile Giorgia, Marcelis Carlo L, Margolin Lauren, Mason Tamara, Masser-Frye Diane, McClellan Michael W, Mendoza Cinthya J Zepeda, Menten Björn, Middelkamp Sjors, Mikami Liya R, Moe Emily, Mohammed Shehla, Mononen Tarja, Mortenson Megan E, Moya Graciela, Nieuwint Aggie W, Ordulu Zehra, Parkash Sandhya, Pauker Susan P, Pereira Shahrin, Perrin Danielle, Phelan Katy, Aguilar Raul E Piña, Poddighe Pino J, Pregno Giulia, Raskin Salmo, Reis Linda, Rhead William, Rita Debra, Renkens Ivo, Roelens Filip, Ruliera Jayla, Rump Patrick, Schilit Samantha L P, Shaheen Ranad, Sparkes Rebecca, Spiegel Erica, Stevens Blair, Stone Matthew R, Tagoe Julia, Thakuria Joseph V, van Bon Bregje W, van de Kamp Jiddeke, van Der Burgt Ineke, van Essen Ton, van Ravenswaaij-Arts Conny M, van Roosmalen Markus J, Vergult Sarah, Volker-Touw Catharina M L, Warburton Dorothy P, Waterman Matthew J, Wiley Susan, Wilson Anna, Yerena-de Vega Maria de la Concepcion A, Zori Roberto T, Levy Brynn, Brunner Han G, de Leeuw Nicole, Kloosterman Wigard P, Thorland Erik C, Morton Cynthia C, Gusella James F, Talkowski Michael E: The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature genetics 49(1): 36-45, Jan 2017.

Parenti Ilaria, Teresa-Rodrigo María E, Pozojevic Jelena, Ruiz Gil Sara, Bader Ingrid, Braunholz Diana, Bramswig Nuria C, Gervasini Cristina, Larizza Lidia, Pfeiffer Lutz, Ozkinay Ferda, Ramos Feliciano, Reiz Benedikt, Rittinger Olaf, Strom Tim M, Watrin Erwan, Wendt Kerstin, Wieczorek Dagmar, Wollnik Bernd, Baquero-Montoya Carolina, Pié Juan, Deardorff Matthew A, Gillessen-Kaesbach Gabriele, Kaiser Frank J: Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Human genetics Jan 2017 Notes: doi: 10.1007/s00439-017-1758-y. [Epub ahead of print]

2016

Ahrens-Nicklas Rebecca C, Khan Shama, Garbarini Jennifer, Woyciechowski Stacy, D'Alessandro Lisa, Zackai Elaine H, Deardorff Matthew A, Goldmuntz Elizabeth: Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. American journal of medical genetics. Part A 170(12): 3090-3097, Dec 2016.

Bhoj Elizabeth J, Yu Zhenming, Guan Qiaoning, Ahrens-Nicklas Rebecca, Cao Kajia, Luo Minjie, Tischler Tanya, Deardorff Matthew A, Zackai Elaine, Santani Avni B: Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genetics in medicine : official journal of the American College of Medical Genetics Oct 2016 Notes: doi: 10.1038/gim.2016.169. [Epub ahead of print]

Ganetzky Rebecca D, Bedoukian Emma, Deardorff Matthew A, Ficicioglu Can: Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. JIMD reports Aug 2016 Notes: [Epub ahead of print]

Green Robert C, Goddard Katrina A B, Jarvik Gail P, Amendola Laura M, Appelbaum Paul S, Berg Jonathan S, Bernhardt Barbara A, Biesecker Leslie G, Biswas Sawona, Blout Carrie L, Bowling Kevin M, Brothers Kyle B, Burke Wylie, Caga-Anan Charlisse F, Chinnaiyan Arul M, Chung Wendy K, Clayton Ellen W, Cooper Gregory M, East Kelly, Evans James P, Fullerton Stephanie M, Garraway Levi A, Garrett Jeremy R, Gray Stacy W, Henderson Gail E, Hindorff Lucia A, Holm Ingrid A, Lewis Michelle Huckaby, Hutter Carolyn M, Janne Pasi A, Joffe Steven, Kaufman David, Knoppers Bartha M, Koenig Barbara A, Krantz Ian D, Manolio Teri A, McCullough Laurence, McEwen Jean, McGuire Amy, Muzny Donna, Myers Richard M, Nickerson Deborah A, Ou Jeffrey, Parsons Donald W, Petersen Gloria M, Plon Sharon E, Rehm Heidi L, Roberts J Scott, Robinson Dan, Salama Joseph S, Scollon Sarah, Sharp Richard R, Shirts Brian, Spinner Nancy B, Tabor Holly K, Tarczy-Hornoch Peter, Veenstra David L, Wagle Nikhil, Weck Karen, Wilfond Benjamin S, Wilhelmsen Kirk, Wolf Susan M, Wynn Julia, Yu Joon-Ho: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American journal of human genetics 99(1): 246, Jul 2016.

Mehta Devanshi, Vergano Samantha A Schrier, Deardorff Matthew, Aggarwal Sarika, Barot Akash, Johnson Drew M, Miller Nathan F, Noon Sarah E, Kaur Maninder, Jackson Laird, Krantz Ian D: Characterization of limb differences in children with Cornelia de Lange Syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 172(2): 155-62, Jun 2016.

January Kathleen, Conway Laura J, Deardorff Matthew, Harrington Ann, Krantz Ian D, Loomes Kathleen, Pipan Mary, Noon Sarah E: Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. American journal of medical genetics. Part C, Seminars in medical genetics 172(2): 237-45, Jun 2016.

Graham John M, Zadeh Neda, Kelley Melissa, Tan Ee Shien, Liew Wendy, Tan Victoria, Deardorff Matthew A, Wilson Golder N, Sagi-Dain Lena, Shalev Stavit A: KCNK9 imprinting syndrome-Further delineation of a possible treatable disorder. American journal of medical genetics. Part A 170(10): 2632-7, May 2016.

Fujiki Katsunori, Shirahige Katsuhiko, Kaur Maninder, Deardorff Matthew A, Conlin Laura K, Krantz Ian D, Izumi Kosuke: Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. Molecular genetics & genomic medicine 4(3): 257-61, May 2016.

Chen Rong, Shi Lisong, Hakenberg Jörg, Naughton Brian, Sklar Pamela, Zhang Jianguo, Zhou Hanlin, Tian Lifeng, Prakash Om, Lemire Mathieu, Sleiman Patrick, Cheng Wei-Yi, Chen Wanting, Shah Hardik, Shen Yulan, Fromer Menachem, Omberg Larsson, Deardorff Matthew A, Zackai Elaine, Bobe Jason R, Levin Elissa, Hudson Thomas J, Groop Leif, Wang Jun, Hakonarson Hakon, Wojcicki Anne, Diaz George A, Edelmann Lisa, Schadt Eric E, Friend Stephen H: Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature biotechnology 34(5): 531-8, May 2016.

Bowdin Sarah, Gilbert Adel, Bedoukian Emma, Carew Christopher, Adam Margaret P, Belmont John, Bernhardt Barbara, Biesecker Leslie, Bjornsson Hans T, Blitzer Miriam, D'Alessandro Lisa C A, Deardorff Matthew A, Demmer Laurie, Elliott Alison, Feldman Gerald L, Glass Ian A, Herman Gail, Hindorff Lucia, Hisama Fuki, Hudgins Louanne, Innes A Micheil, Jackson Laird, Jarvik Gail, Kim Raymond, Korf Bruce, Ledbetter David H, Li Mindy, Liston Eriskay, Marshall Christian, Medne Livija, Meyn M Stephen, Monfared Nasim, Morton Cynthia, Mulvihill John J, Plon Sharon E, Rehm Heidi, Roberts Amy, Shuman Cheryl, Spinner Nancy B, Stavropoulos D James, Valverde Kathleen, Waggoner Darrel J, Wilkens Alisha, Cohn Ronald D, Krantz Ian D: Recommendations for the integration of genomics into clinical practice. Genetics in medicine : official journal of the American College of Medical Genetics 18(11): 1075-1084, May 2016.

Kaur Maninder, Mehta Devanshi, Noon Sarah E, Deardorff Matthew A, Zhang Zhe, Krantz Ian D: NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. American journal of medical genetics. Part C, Seminars in medical genetics 172(2): 163-70, Apr 2016.

Werner Petra, Latney Brande, Deardorff Matthew A, Goldmuntz Elizabeth: MESP1 Mutations in Patients with Congenital Heart Defects. Human mutation 37(3): 308-14, Mar 2016.

Ganetzky Rebecca D, Bloom Kaitlyn, Ahrens-Nicklas Rebecca, Edmondson Andrew, Deardorff Matthew A, Bennett Michael J, Ficicioglu Can: ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. JIMD reports epub ahead of print, Feb 2016.

Kalish Jennifer M, Boodhansingh Kara E, Bhatti Tricia R, Ganguly Arupa, Conlin Laura K, Becker Susan A, Givler Stephanie, Mighion Lindsey, Palladino Andrew A, Adzick N Scott, De León Diva D, Stanley Charles A, Deardorff Matthew A: Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. Journal of medical genetics 53(1): 53-61, Jan 2016.

2015

Zollino Marcella, Marangi Giuseppe, Ponzi Emanuela, Orteschi Daniela, Ricciardi Stefania, Lattante Serena, Murdolo Marina, Battaglia Domenica, Contaldo Ilaria, Mercuri Eugenio, Stefanini Maria Chiara, Caumes Roseline, Edery Patrick, Rossi Massimiliano, Piccione Maria, Corsello Giovanni, Della Monica Matteo, Scarano Francesca, Priolo Manuela, Gentile Mattia, Zampino Giuseppe, Vijzelaar Raymon, Abdulrahman Omar, Rauch Anita, Oneda Beatrice, Deardorff Matthew A, Saitta Sulagna C, Falk Marni J, Dubbs Holly, Zackai Elaine: Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Journal of medical genetics 52(12): 804-14, Dec 2015.

Kadhim M, Deardorff MA, Dubbs H, Zackai EH, Dormans JP.: Melorheostosis: segmental osteopoikilosis or a separate entity? J Pediatr Orthop.  35(2): 313-17, 2015.

Liu Yichuan, Li Yun, March Michael E, Nguyen Kenny, Kenny Nguyen, Xu Kexiang, Wang Fengxiang, Guo Yiran, Keating Brendan, Glessner Joseph, Li Jiankang, Ganley Theodore J, Zhang Jianguo, Deardorff Matthew A, Xu Xun, Hakonarson Hakon: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Human genomics 9: 31, Nov 2015.

Decroos Christophe, Christianson Nicolas H, Gullett Laura E, Bowman Christine M, Christianson Karen E, Deardorff Matthew A, Christianson David W: Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders. Biochemistry 54(42): 6501-13, Oct 2015.

Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL.: Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Hum Genomics.  19: 9-15, Jul 19 2015.

Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE.: Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. Am J Med Genet A.  167(6): 1179-92, Jun 24 2015.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID.: Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet.  47(4): 338-344, Apr 2015.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.: De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat.  36(4): 454-462, Apr 2015.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA.: Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. Eur J Hum Genet.  23(2): 646-666, Feb 2015.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.: Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet.  52(2): 104-10, Feb 2015.

Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK: CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA(+) Lon Protease. Am J Hum Genet.  96(1): 121-135, Jan 8 2015.

2014

Vergano SS, Deardorff MA.: Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet.  166C(3): 252-256, Sept 2014.

Decroos C, Bowman CM, Moser JA, Christianson KE, Deardorff MA, Christianson DW.: Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. ACS Chem Biol.  9(9): 2157-2164, Sept 19 2014.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.: Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.  Hum Mol Genet. 23(11): 2888-900, Jun 2014.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA.: De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet.  94(5): 784-789, May 1 2014.

Wenger TL, Gerdes J, Taub K, Swarr DT, Deardorff MA, Abend NS. : Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit.  J Perinatol.   34(3): 234-240, March 2014 Notes: doi: 10.1038/jp.2013.159. Epub 2014 Jan 9.

Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. : Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap withpseudoxanthoma elasticum. J Invest Dermatol.  134(3): 658-665, March 2014 Notes: doi: 10.1038/jid.2013.370. Epub 2013 Sep 5.

Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, Gauze M, Carrico CS, Woodman J, Gerton JL, Vega H, Levin AV, Shirahige K, Champion M, Goodban MT, O'Connor JT, Pipan M, Horsfield J, Deardorff MA, Ishman SL, Dorsett D.: Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts. Am J Med Genet A.  164A(6): 1384-93, Feb 2014.

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.  161(9): 2134-2147, 2013.

Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA*, Judge DP*. *corresponding author.: A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.   Am J Med Genet A.  161A(2): 371-376, Fed 2013.

Jyonouchi S, Orange J, Sullivan KE, Krantz I, Deardorff M.: Immunologic features of cornelia de lange syndrome.   Pediatrics 132(2): e484-489, 2013.

Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID. : Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations.  Am J Med Genet A.  161(9): 2148-2157, 2013.

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, Jun 2013.

Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N. : Improving surveillance for hyperammonemia in the newborn.   Mol Genet Metab. 110(1-2): 102-5, May 2013.

Kalish Jennifer M, Conlin Laura K, Mostoufi-Moab Sogol, Wilkens Alisha B, Mulchandani Surabhi, Zelley Kristin, Kowalski Megan, Bhatti Tricia R, Russo Pierre, Mattei Peter, Mackenzie William G, LiVolsi Virginia, Nichols Kim E, Biegel Jaclyn A, Spinner Nancy B, Deardorff Matthew A: Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. American journal of medical genetics. Part A 161A(5): 993-1001, May 2013.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG.: Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.   Am J Hum Genet.  92(3): 392-400, Mar 2013.

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): 166-171, Jan 2013.

2012

Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR.: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.   Nature Genetics 44(4): 445-449, 2012.

Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MAD, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA.: The Coffin-Siris syndrome: A Proposed Diagnostic Approach and Assessment of 15 Overlapping Cases.   Am J Med Genet  158A(8): 1865-76, 2012.

Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR: NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.    Genetics in Medicine 143(3): 313-322, 2012.

Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz ID, Pipan M: Investigation of Autistic Features Among Individuals with Mild to Moderate Cornelia de Lange Syndrome. Am J Med Genet 158A(8): 1841-7, 2012.

Gimigliano A, Mannini L, Bianchi L, Puglia M, Deardorff M, Menga S, Krantz I, Musio A, Bini L: Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells With Distinct Mutations in SMC1A and SMC3 Genes.   J Proteome Res.  7(11): 6111-6123, Dec 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 origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.   Am J Med Genet A.  158A(12): 3046-3056, Dec 2012.

Clark DM, Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, Krantz ID: Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies. Am J Med Genet 158A(8): 1848-56, 2012.

Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA*, Kaiser FJ.: Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. *corresponding author. Eur J Hum Genet 20(3): 271-276, 2012.

Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID.: Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis.   Am J Med Genet A.  158A(10): 2499-2505, October 2012.

Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K.: HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489(7415): 313-7, September 2012.

Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke H-J, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ: RAD21 Mutations Cause a Human Cohesinopathy.   Am J Hum Genet  90(6): 1014-27, Jun 2012.

2011

Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H.: Neutral mitochondrial heteroplasmy and the influence of aging.  Human Molecular Genetics  20(8): 1653-1659, 2011.

Keller MD, Petersen M, Ong P, Church J, Risma K, Burham J, Jain A, Stiehm ER, Hanson EP, Uzel G, Deardorff MA, Orange JS. : Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.  Frontiers in Immunology. 2(6): 1-8, 2011.

Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. : Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.  Am J Med Genet A.  155A(12): 3007-24, Nov 2011.

Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG.: A mosaic activating mutation in AKT1 associated with the Proteus syndrome.  New England Journal of Medicine.  365(7): 611-619, August 18 2011.

Deardorff MA, Sainz J, Grant SF: Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion.  BMC Medicine.  32: 9-13, Feb 2011.

Lambert MP, Jackson LG, Clark D, Kaur M, Krantz ID, Deardorff MA: The Incidence of Thrombocytopenia in Children with Cornelia de Lange Syndrome. American Journal of Medical Genetics 155A(1): 33-7, Jan 2011.

2010

Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA: Facial Diagnosis of Mild and Variant CdLS:  Insights from a Dysmorphologist Survey. American Journal of Medical Genetics 152A(7): 1641-53, 2010.

Pie J, Gil-Rodriguez MC, Ciero M, Lopez-Vinas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Lagerreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gomez-Puertas P, Ramos FJ: Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A and SMC3 in a cohort of 30 Unrelated Patients with Cornelia de Lange Syndrome. American Journal of Medical Genetics 152A: 924-9, 2010.

Girirajan Santhosh, Rosenfeld Jill A, Cooper Gregory M, Antonacci Francesca, Siswara Priscillia, Itsara Andy, Vives Laura, Walsh Tom, McCarthy Shane E, Baker Carl, Mefford Heather C, Kidd Jeffrey M, Browning Sharon R, Browning Brian L, Dickel Diane E, Levy Deborah L, Ballif Blake C, Platky Kathryn, Farber Darren M, Gowans Gordon C, Wetherbee Jessica J, Asamoah Alexander, Weaver David D, Mark Paul R, Dickerson Jennifer, Garg Bhuwan P, Ellingwood Sara A, Smith Rosemarie, Banks Valerie C, Smith Wendy, McDonald Marie T, Hoo Joe J, French Beatrice N, Hudson Cindy, Johnson John P, Ozmore Jillian R, Moeschler John B, Surti Urvashi, Escobar Luis F, El-Khechen Dima, Gorski Jerome L, Kussmann Jennifer, Salbert Bonnie, Lacassie Yves, Biser Alisha, McDonald-McGinn Donna M, Zackai Elaine H, Deardorff Matthew A, Shaikh Tamim H, Haan Eric, Friend Kathryn L, Fichera Marco, Romano Corrado, Gécz Jozef, DeLisi Lynn E, Sebat Jonathan, King Mary-Claire, Shaffer Lisa G, Eichler Evan E: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics 42(3): 203-9, 2010.

Crowley M, Conlin L, Zackai E, Deardorff MA, Thiel B, Spinner N: Further Evidence for the Possible Role of MEIS2 in the Development of Cleft Palate and Cardiac Septum. American Journal of Medical Genetics 152A(5): 1326-7, 2010.

Conlin Laura K, Thiel Brian D, Bonnemann Carsten G, Medne Livija, Ernst Linda M, Zackai Elaine H, Deardorff Matthew A, Krantz Ian D, Hakonarson Hakon, Spinner Nancy B: Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Human Molecular Genetics 19(7): 1263-75, 2010.

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

2009

Zhang B, Chang J, Fu M, Huang J, Kashyap R, Salavaggione E, Jain S, Shashikant K, Deardorff MA, Uzielli ML, Dorsett D, Beebe DC, Jay PY, Heuckeroth RO, Krantz I, Milbrandt J: Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies. PLoS ONE 4(5): e5232, 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, 2009.

Hunter AGW, Collins JS,  Deardorff MA, Krantz ID: Detailed Assessment of the Ear in Cornelia de Lange Syndrome: Comparison with a Control Sample Using the New Dysmorphology Guidelines. American Journal of Medical Genetics 149A(10): 2181-92, 2009.

Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Human Mutation 30(11): 1535-42, Nov 2009.

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.  Molecular Genetics and Metabolism  94(4): 498-502, 2008.

2007

Deardorff, M. A.,  Kaur, M.,  Yaeger, D.,  Rampuria, A.,  Korolev, S.,  Pie, J.,  Gil-Rodriguez, C.,  Arnedo, M.,  Loeys, B.,  Kline, A. D.,  Wilson, M.,  Lillquist, K.,  Siu, V.,  Ramos, F. J.,  Musio, A.,  Jackson, L. S.,  Dorsett, D.,  Krantz, I. D.: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80(3): 485-94, 2007.

Botzenhart, E. M.,  Bartalini, G.,  Blair, E.,  Brady, A. F.,  Elmslie, F.,  Chong, K. L.,  Christy, K.,  Torres-Martinez, W.,  Danesino, C.,  Deardorff, M. A.,  Fryns, J. P.,  Marlin, S.,  Garcia-Minaur, S.,  Hellenbroich, Y.,  Hay, B. N.,  Penttinen, M.,  Shashi, V.,  Terhal, P.,  Van Maldergem, L.,  Whiteford, M. L.,  Zackai, E.,  Kohlhase, J.: Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat 28(2): 204-5, 2007.

2006

Ernst, L. M.,  Sondheimer, N.,  Deardorff, M. A.,  Bennett, M. J.,  Pawel, B. R.: The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr 148(6): 779-83, 2006.

2004

Deardorff, M. A.,  Maisenbacher, M.,  Zackai, E. H.: Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. Am J Med Genet A 130(4): 393-4, 2004.

2001

Tan, C.,  Deardorff, M. A.,  Saint-Jeannet, J. P.,  Yang, J.,  Arzoumanian, A.,  Klein, P. S.: Kermit, a frizzled interacting protein, regulates frizzled 3 signaling in neural crest development. Development 128(19): 3665-74, 2001.

Rasmussen, J. T.,  Deardorff, M. A.,  Tan, C.,  Rao, M. S.,  Klein, P. S.,  Vetter, M. L.: Regulation of eye development by frizzled signaling in Xenopus. Proc Natl Acad Sci U S A 98(7): 3861-6, 2001.

Deardorff, M. A.,  Tan, C.,  Saint-Jeannet, J. P.,  Klein, P. S.: A role for frizzled 3 in neural crest development. Development 128(19): 3655-63, 2001.

2000

Deardorff, M. A.,  Tan, C.,  Saint-Jeannet, J. P.,  Klein, P. S.: A role for frizzled 3 in neural crest development. Development 128(19): 3655-63, 2001.

1999

Hedgepeth, C. M.,  Deardorff, M. A.,  Rankin, K.,  Klein, P. S.: Regulation of glycogen synthase kinase 3beta and downstream Wnt signaling by axin. Mol Cell Biol 19(10): 7147-57, 1999.

Hedgepeth, C. M.,  Deardorff, M. A.,  Klein, P. S.: Xenopus axin interacts with glycogen synthase kinase-3 beta and is expressed in the anterior midbrain. Mech Dev 80(2): 147-51, 1999.

Deardorff, M. A.,  Klein, P. S.: Xenopus frizzled-2 is expressed highly in the developing eye, otic vesicle and somites. Mech Dev 87(1-2): 229-33, 1999.

1998

Shore, E. M.,  Xu, M.,  Shah, P. B.,  Janoff, H. B.,  Hahn, G. V.,  Deardorff, M. A.,  Sovinsky, L.,  Spinner, N. B.,  Zasloff, M. A.,  Wozney, J. M.,  Kaplan, F. S.: The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation. Calcif Tissue Int 63(3): 221-9, 1998.

Deardorff, M. A.,  Tan, C.,  Conrad, L. J.,  Klein, P. S.: Frizzled-8 is expressed in the Spemann organizer and plays a role in early morphogenesis. Development 125(14): 2687-700, 1998.

1993

Cornelius LAM, Bone RGA, Hastings RH, Deardorff MA, Scharlach RA, Hauptmann BE, Stankovic CJ, and Pinnick HW. : Synthesis of 2-acetylbicyclo[2.2.1]hept-2-ene.   Journal of Organic Chemistry 53(11): 3188-3190, 1993.

Abstracts

2016

T. Funari; D. Stern; M. Cho; R. Chikarmane; J. Hoffman; R. Willaert; K. Retterer; H. Crawford; F. Kendall; M. Deardorff; S. Hopkins; E. Bedoukian; A. Slavotinek; S. Vergano; B. Spangler; M. McDonald; A. McConkie-Rosell; B. Burton; K. Kim; B. Baskin; H. McLaughlin; D. McKnight; J. Juusola 1 ; W. Chung: Further clinical delineation of PACS1-related syndrome due to a recurrent de novo pathogenic variant. American Society of Human Genetics Annual Meeting, Vancouver, British Columbia 2016.

Rebecca Ahrens-Nicklas, Elaine Zackai, Matthew Deardorff, Stacy Woyciechowski, Jennifer Garbarini, Lisa D'Alessandro, Shama Kahn, Elizabeth Goldmuntz: Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. American Society of Clinical Genetics Annual Meeting, Tampa, Florida 2016.

Qais Abu Ali, Megan Cho, Jane Juusola, Matthew Deardorff, Kristin Monaghan, Amanda Lindy, Kyle Retterer, Tawfeg Ben-Omran, Francisca Millan, Rehab Ali, Mariam Al-Mureikhi, Samantha Schrier Vergano, Brooke Spangler, Richard Finkel, Patricia Wheeler, Livija Medne, Heather McLaughlin, Daniel Pineda-Alvarez, Sherri Bale, Wendy Chung: Recessive pathogenic variants in the MICU1 gene: expanding the phenotypic and genotypic spectrum. American Society of Clinical Genetics Annual Meeting, Tampa, Florida 2016.

Leah Dowsett, Matt Deardorff, Elaine H. Zackai: Treatment Approach for Infantile Myofibromatosis Caused by PDGFRB Mutations. David W. Smith Meeting on Malformations and Morphogenesis, Lake Arrowhead, California 2016.

Jennifer M. Kalish, Paul Ginart, Kelly Duffy, Alice Yu, Matthew A. Deardorff, Arjun Raj, and Marisa S. Bartolomei: Detecting Genetic and Epigentic Mosaicism in Beckwith-WIedemann Syndrome. David W. Smith Meeting on Malformations and Morphogenesis, Lake Arrowhead, California 2016.

Gozde Akgumus, Jaclyn Biegel, Elaine Zackai, Matthew Deardorff, Laura Conlin, Jinbo Fan, Gerald Wertheim, Surabhi Mulchandani, Kristin Zelley, Kim Nichols, Donna Wilmoth, Adam Gleason, Nancy Spinner, Marilyn Li, Minjie Luo: Mosaic Monosomy 7: A New Syndrome with Increased Risk of Hematologic Disease. American Society of Clinical Genetics Annual Meeting, Tampa, Florida 2016.

Ganka Douglas, Wendy Chung, Megan Cho, Jane Juusola, Elaine Zackai, Matthew Deardorff, Kyle Retterer, Daniel Pineda-Alvarez, Susan Winter, Jason Carmichael, Margaret Harr, Theresa Grebe: De novo in-frame deletion and missense variants in MEIS2 recapitulate the deletion phenotype and expand the genotype and phenotype spectrum of this newly recognized disorder. American Society of Clinical Genetics Annual Meeting, Tampa, Florida 2016.

Erica Schindewolf, Matthew Deardorff, Nahla Khalek, Cara Skraban: TRPS1-null causing lethal skeletal dysplasia. American Society of Clinical Genetics Annual Meeting, Tampa, Florida 2016.

Elaine H Zackai, Donna M. McDonald-McGinn, Emma C Bedoukian, Miao He, Matthew A Deardorff, Andrew C Edmondson: Benefits of Bovine Biology, SLC35A3 Explains Human Vertebral Anomalies and Delineates a New Syndrome. David W. Smith Meeting on Malformations and Morphogenesis, Lake Arrowhead, California 2016.

Dena Matalon, Elizabeth Bhoj, Carey McDougall, Erica Schindewolf, Nahla Khalek, Alisha Wilkens, Matthew A. Deardorff, Elaine H. Zackai: Three Additional Cases of FATCO Syndrome:  Vascular Disruption Sequence, Genetic Syndrome, or Both? David W. Smith Meeting on Malformations and Morphogenesis, Lake Arrowhead, California 2016.

Cara Skraban, Erica Schindewolf, Nahla Khalek, Matthew A. Deardorff: TRPS1 Biallelic Null: A Severe Lethal Skeletal Dysplasia. David W. Smith Meeting on Malformations and Morphogenesis, Lake Arrowhead, California 2016.

Cara Skraban, Elaine Zackai, Matthew Deardorff, Matthew Lee, Alisha Wilkens: Expanding the phenotypic spectrum of SOX11 mutations in patients with distal digital hypoplasia and intellectual disability. American Society of Clinical Genetics Annual Meeting, Tampa, Florida 2016.

Andrew C Edmondson, Emma C Bedoukian, Livija Medne, Jennifer Tarpinian, Margaret H Harr, Rebecca Ganetzky, Elaine H Zackai, Matthew A Deardorff, Ian D Krantz: Exome Sequencing Identifies Treatable Genetic Disease. David W. Smith Meeting on Malformations and Morphogenesis, Lake Arrowhead, California 2016.

2015

Zackai EH, Harr MH, Deardorff MA: Of MEIS and Men, MEIS2 Plays an Integral Role in Palate, Cardiac and Brain Development. David W. Smith Meeting on Malformations and Morphogenesis, St. Michaels, Maryland  2015.

Skraban C, Wilkens A, Conlin L, Deardorff MA: Microdeletions Flanking the HOXD Cluster Further Define Regulatory Elements in Mesomelic Dysplasia Kantaputra Type. American College of Medical Genetics Meeting.  Salt Lake City, Utah 2015.

Sarah Noon, Ann Harrington, Kathleen January, Kathleen Loomes, Mary Pipan, Matthew Deardorff, Ian Krantz: Benefits and Limitations of a Multidisciplinary Clinic Approach to Individualized Management of Cornelia de Lange Syndrome and Related Diagnoses: The Parents' Perspective. American Society of Clinical Genetics Annual Meeting, Salt Lake City, Utah 2015.

Rebecca Ahrens-Nicklas, George Umanah, Neal Sondheimer, Matthew Deardorff, Alisha Wilkens, Avni Santani, Addie Nesbitt, Ted Dawson, Valina Dawson, Eric Marsh: Targeted Therapy for a Novel Neurologic Disorder Identified by Whole Exome Sequencing. American Society of Clinical Genetics Annual Meeting, Salt Lake City, Utah 2015.

L. Medne; E. Bedoukian; A. Wilkens; M. Deardorff; I. Krantz: The Individualized Medical Genetics Center: Facilitating Systematic Integration of Genetic Testing into Patient Care. American Society of Human Genetics Annual Meeting, Baltimore, Maryland 2015.

Kaplan J, Bober M, Vergano S, Bennett J, Solomon B, Deardorff M: The Prenatal Presentation of IMAGe Syndrome. David W. Smith Meeting on Malformations and Morphogenesis, St. Michaels, Maryland  2015.

Kalish JM, Ebrahimzadeh J, Purrazzella J, Reichert S, Richards-Yutz J, Treece A, Khalek N, McKay E, Ganguly A, Deardorff MA: Prenatal Findings in Beckwith-Wiedemann Syndrome. David W. Smith Meeting on Malformations and Morphogenesis, St. Michaels, Maryland  2015.

K. January; S. Noon; K. Loomes; A. Harrington; M. Deardorff; M. Pipan; L. Conway; I. Krantz : Benefits and Limitations of a Multidisciplinary Approach to Individualized Management of Cornelia de Lange Syndrome and Related Diagnoses. American Society of Human Genetics Annual Meeting, Baltimore, Maryland 2015.

K. G. Monaghan; A. J. Tanaka; M. T. Cho; F. Millan; J. Juusola; K. Retterer; C. Joshi; D. Niyazov; A. Garnica; E. Gratz; M. Deardorff; A. Wilkins; X. Ortiz-Gonzalez; K. Mathews; K. Panzer ; E. Brilstra; K. L. I. van Gassen; C. M. L. Volker-Touw; E. van Binsbergen; N. Sobreira; A. Hamosh; D. McKnight; W. K. Chung: SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive syndrome characterized by microcephaly, intellectual disability, seizures, and hearing loss. American Society of Human Genetics Annual Meeting, Baltimore, Maryland 2015.

K. B. Pechter; A. I. Nesbitt; E. H. Denenberg ; S. W. Baker; Z. Yu; E. T. Dechene; E. C. Bedoukian; M. Luo; L. K. Conlin; A. Wilkens; L. Medne; I. D. Krantz; M. A. Deardorff; A. B. Santani: Bias has no place in exome sequencing. American Society of Human Genetics Annual Meeting, Baltimore, Maryland 2015.

Emma Bedoukian, Alisha Wilkens, Livija Medne, Matthew Deardorff, Ian Krantz: The Individualized Medical Genetics Center: Facilitating Systematic Integration of Genetic Testing into Patient Care. American Society of Clinical Genetics Annual Meeting, Salt Lake City, Utah 2015.

Deardorff MA, Gil-Rodríguez MC, Ansari M, Krantz ID, Kaiser FJ, FitzPatrick DR, Pié J  and international collaborators: SMC3 Mutations cause a Variable Cohesinopathy Phenotype. David W. Smith Meeting on Malformations and Morphogenesis, St. Michaels, Maryland  2015.

D. Copenheaver; J. Juusola; K. Retterer; P. Vitazka; F. Gibellini; A. Marth; E. Butler; M. Deardorff; E. Zackai; E. Bedoukian; A. Wilkens; L. Medne; A. Lehman; D. Niyazov; J. Graham; Z. Y. Kucuk; G. Nalepa; C. Griffin; M. Willing; J. Bernat; D. Vats; L. Massingham; A. Poduri; W. Chung; G. Richard; S. Bale: Clinical Rapid Whole Exome Sequencing Experience. American Society of Human Genetics Annual Meeting, Baltimore, Maryland 2015.

C. Wu; M. A. Deardorff; M. Sarmady: Random Walk on Ontology for Rare Disorder Diagnosis. American Society of Human Genetics Annual Meeting, Baltimore, Maryland 2015.

Ahrens-Nicklas RC, Umanah GKE, Sondheimer N, Deardorff MA, Wilkens AB, Santani AB, Nesbitt A, Dawson TM, Dawson VL, Marsh ED: Targeted Therapy for a Novel Neurologic Disorder Due to Mutaitons in ATAD1. David W. Smith Meeting on Malformations and Morphogenesis, St. Michaels, Maryland  2015.

A. I. Nesbitt; E. Denenberg; Z. Yu; S. W. Baker; K. B. Pechter; E. Dechene; H. Dubbs; E. Bedoukian; A. Wilkens; L. Medne; X. Ortiz-Gonzale; E. Zackai; I. Krantz; M. Deardorff; A. Santani: The hunt for rare disease diagnosis: Utilization of social media, model organisms, and pathway analysis in pediatric exome sequencing. American Society of Human Genetics Annual Meeting, Baltimore, Maryland 2015.

Books

Chapters

2011

Shah N: Trisomy 21. In: Genetic and Metabolic Disorders. Netter's Pediatrics. Section Ed. Deardorff MA.  Eds. Florin TA and Ludwig S (eds.). Saunders, Philadelphia, 2011.

Mucha-Le Ny B and Jethva R: Chromosomal Abnormalities. In: Genetic and Metabolic Disorders. Netter's Pediatrics. Section Ed. Deardorff MA.  Eds. Florin TA and Ludwig S (eds.). Saunders, Philadelphia, 2011.

Kalish JM and Haldeman-Englert CR: Genetic Syndromes. In: Genetic and Metabolic Disorders. Netter's Pediatrics. Section Ed. Deardorff MA.  Eds. Florin TA and Ludwig S (eds.). Saunders, Philadelphia, 2011.

Jethva R: Inborn Errors of Metabolism.  In: Genetic and Metabolic Disorders. Netter's Pediatrics. Section Ed. Deardorff MA.  Eds. Florin TA and Ludwig S (eds.). Saunders, Philadelphia, 2011.

Haldeman-Englert CR and Kalish JM: Disorders of Sexual Development. In: Genetic and Metabolic Disorders. Netter's Pediatrics. Section Ed. Deardorff MA.  Eds. Florin TA and Ludwig S (eds.). Saunders, Philadelphia, 2011.

Chatfield K: Principles of Human Genetics. In: Genetic and Metabolic Disorders. Netter's Pediatrics. Section Ed. Deardorff MA.  Eds. Florin TA and Ludwig S (eds.). Saunders, Philadelphia, 2011.

2009

Deardorff MA and Krantz ID. : Cornelia De Lange Syndrome. Encyclopedia of Neuroscience. Squire LR  (eds.). Oxford: Academic Press, 3: 1598-162, 2009.

2007

Deardorff MA and Zackai EH.  : Chromosomal Abnormalities.   Comprehensive Pediatric Hospital Medicine. Zaoutis LB and Chiang VW (eds.). Mosby Elsevier, Philadelphia, PA, 2007.

Deardorff MA and Krantz I.  : Cornelia de Lange Syndrome.   In: Inborn Errors of Development. Epstein CJ, Erickson RP and Wynshaw-Boris A.  (eds.).  Oxford Press, 2007.

2005

Deardorff MA and Kaplan P.  : Marfan Syndrome.  In: The Philadelphia Guide: Inpatient Pediatrics.    Blackwell Press. Eds Frank G, Shah S, Zaoutis L, Catalozzi M.  (eds.). 2005.

Posters and Presentations

Invited Lectures

2016

Deardorff MA. "WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, prominent maxilla and micrognathia", David W. Smith Meeting on Malformations and Morphogenesis, Lake Arrowhead, California, Aug, 2016.

Deardorff MA. "Insights into CdLS from Exome Sequencing".  Cornelia de Lange Syndrome USA Foundation Scientific Symposium, Orlando, Florida, Jun, 2016.

2015

Deardorff MA. "Human Disorders of Cohesin".  University of Colorado Anschutz Medical Campus,  Denver, Colorado, Dec, 2015.

Deardorff MA. "Human Cohesinopathies: The 'Embrace' of Laird Jackson." Festschrift Honoring Laird Jackson, M.D., national audience hosted at Penn.  Philadelphia, Pennsylvania, Oct, 2015.

Deardorff MA. "SMC3 and human developmental disorders".  EMBO Workshop on SMC Proteins, Vienna Austria, May, 2015.

Awards and Honors

2014, Laird S. Jackson Award, USA Cornelia de Lange Syndrome Foundation

2014, Perelman School of Medicine at the University of Pennsylvania Dean's Award for Excellence In Basic Science Teaching

2013, Doris Duke Charitable Foundation Clinical Scientist Development Award

2010, American Academy of Pediatrics, Section on Genetics and Birth Defects, Young Investigator Award

2010, Children's Hospital of Philadelphia Residency Program, Faculty Teaching Honor Roll

2009, University of Pennsylvania McCabe Fund, Fellow Award

2007, Philadelphia Foundation Young Investigator Award

2006, Philadelphia Genetics Group William Mellman Award

2006, Children's Hospital of Philadelphia Fellow's Poster Day Award

2006, David W. Smith Workshop Fellow Award

2006, Alavi-Dabiri Postdoctoral Fellowship Award for Research in Mental Retardation

2005, David W. Smith Workshop Fellow Award

2005, Cornelia de Lange Syndrome USA Foundation Research Award

1998, University of Pennsylvania Dr. Roy G. Williams Prize for Medical Student Research

1997, Outstanding Poster, Society for Developmental Biology, Atlantic Region

1996-2000, Life and Health Insurance Medical Research Fund Scholarship

1995-2001, University of Pennsylvania School of Medicine Franklin Medical Scholar

1994-1995, American Heart Association Fellowship for Medical Student Research

1993, Howard Hughes Fellowship for Medical Student Research

1992, Phi Beta Kappa, Bucknell University

1992, Summa Cum Laude, Bucknell University

1991, Sigma Xi

Editorial and Academic Positions

Editorial Positions

2015-present, Reviewer, Genetics in Medicine

2014-present, Reviewer, Journal of Clinical Investigation

2014-present, Reviewer, Nature Genetics

2013-present, Reviewer, American Journal of Human Genetics

2013-present, Reviewer, Human Molecular Genetics

2013-present, Reviewer, Genetics Home Reference website

2013-present, Reviewer, Medical Home Portal website

2013-present, Reviewer, European Journal of Pediatrics

2012-present, Peer Reviewer, BMC Genomics

2012-present, Peer Reviewer, Journal of Medical Genetics

2012-present, Peer Reviewer, BMC Medical Genetics

2011-present, Peer Reviewer, Human Mutation

2010-present, Peer-Reviewer European Journal of Human Genetics

2010-present, Peer-Reviewer Journal of Molecular and Cellular Medicine

2006-present, Peer-Reviewer Pediatric Emergency Care

2006-present, Peer-Reviewer American Journal of Medical Genetics

Academic and Institutional Committees

2016-present, Institutional Review Board, Subcommittee on Return of Genetic Results, CHOP, Chair

2015-present, Research Institute, Research Information Systems Advisory Committee, CHOP

2014-present, Therapeutic Standards Committee, Subcommittee on Genomics, CHOP

2011-present, Telemedicine Development Team

2010-present, Genetics Division, Quality and Patient Safety Champion, CHOP

2009-present, Genetics Division Leader, Epic computerized medical record implementation, CHOP

2008-present, Residency Review Committee Member, CHOP

Leadership and Memberships

Memberships in Professional Organizations

International

2009-present, International Skeletal Dysplasia Society

2008-present, European Society of Human Genetics

National

2014-present, National Institutes of Health, Pediatrics Study Section

2011-present, American College of Medical Genetics

2006-present, Cornelia de Lange Syndrome National Foundation

 - 2007-present, Scientific Advisory Committee

2001-present, American Academy of Pediatrics

1999-present, American Society of Human Genetics