Cara M. Skraban, MD

Papers

2023

Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC. Am Journal Medical Genetics Part A. 2023. 191(5): 1418-1424.

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics. 2023. 110(2): 215-227.

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R. Brain. 2023. 146(8): 3273-3288.

Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genetics in Medicine. 2023. 25(8): 100863.

Izumi K, Ganetzky RD, Wertheim GBW, Skraban CM, Bedoukian EC, Wilkens A, Fincher C, Thomas NH, Ginsberg JP, Rheingold SR, Conlin LK, Deardorff MA. Co-occurrence of Pallister-Killian syndrome and Burkitt lymphoma in a patient with near-normal neurocognitive development. Molecular Syndromology. 2023. 14(4): 303-309.

Regan-Fendt KE, Rippert AL, Medne L, Skraban CM, DeJesse J, Gray C, Reichert SL, Staropoli NP, Santos FJR, Krantz ID, Murrell JR, Izumi K. Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children’s hospital. American Journal of Medical Genetics Part A. 2023. 191(8): 2149-2155.

Strong A, Behr M, Lott C, Clark AJ, Mentch F, Da Silva RP, Rux DR, Campbell R, Skraban C, Wang X, Anari JB, Sinder B, Cahill PJ, Sleiman P, Hakonarson H. Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort. Scientific Reports. 2023. 13(1): 991.

Deniz E, Pasha M, Guerra ME, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani SA, Medne L, Skraban C, Krantz I, Khokha MK. CFAP45, a heterotaxy and congenital heart disease genee, affects cilia stability. Developmental Biology. 2023. 499: 75-88.

Callahan KP, Radack J, Wojcik MH, Jenkins SM, Nye RT, Skraban C, Wild KT, Feudtner C. Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016-2021. Genetics in Medicine. 2023. 25(3): 100357.

2022

Callahan KP, Flibotte J, Skraban C, Wild KT, Joffe S, Munson D, Feudtner C. How neonatologists use genetic testing: findings from a national survey. Journal of Perinatology. 2022. 42: 260-261.

Callahan KP, Flibotte J, Skraban C, Wild KT, Joffe S, Munson D, Feudtner C. Influence of Genetic Information on Neonatologists’ Decisions: A Psychological Experiment. Pediatrics. 2022. 149(3): e2021052130.

Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick H, Peranteau W, Krantz I. Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases. Journal of Pediatrics. 2022. 246: 251-265.

Liu M, Smith CL, Biko DM, Li D, Pinto E, O’Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard S. Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. European Journal of Human Genetics. 2022. doi: 10.1038/s41431-022-01123-9.

Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaranam P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, Gibson KM, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? The Journal of Molecular Diagnostics. 2022. 24(3): 274-286.

2021

Bedoukian EC, Rentas S, Skraban C, Shao Q, Treat J, Laird DW, Sullivan KE. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. Mol Genet Genomic Med. 2021. 00:e1574.

Rodan L, Spillmann R, Kurata H, Lamothe S, Maghera J, Jamra R, Alkelai A, Antonarakis S, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, van Bogaert P, Bolkier Y, Burrage L, Christ B, Granadillo J, Dickson P, Donald K, Dubourg C, Eiliyahu A, Emrick L, Engelman K, Gonfiantini M, Good J, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O’Heir E, Ortiz-Gonzalez X, Pacio-Miguez, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld J, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, can Jaabrsveld R, Vincent M, Wang H, Zacher P, Undiagnosed Disease Network, Rush E, Pitt G, Au P, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021. https://doi.org/10.1038/s41436-021-01232-8

Grand K*, Skraban C*, Cohen J, Dowsett L, Mazzola S, Tarpinian J, Bedoukian E, Nesbitt A, Denenberg B, Lulis L, Santani A, Zackai E, Deardorff M. Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. Am J Med Genet. 2021. https://doi.org/10.1002/ajmg.a.62387

Harris H, Nakayama T, Lai J, Zhao B, Argyrou N. Gubbels C, Soucy A, Genetti C, Suslovitch V, Rodan L, Tiller G, Lesca G, Gripp K, Asadollahi R, Hamosh A, Applegate C, Turnpenny P, Simon M, Volker-Touw C, van Gassen K, van Binsbergen E, Pfundt R, Gardeitchik T, de Vries B, Immken L, Buchanan C, Willing M, Toler T, Fassi E, Baker L, Vansenne F, Wang X, Ambrus J, Fannemel M, Posey J, Agolini E, Novelli A, Rauch A, Boonsawat P,  Fagerberg C, Larsen M, Kibaek M, Labalme A, Poisson A, Payne K, Walsh L, Aldinger K, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp C, Pascolini G, Grammatico P, Broly M, Kury S, Nizon M, Rasool I, Zahoor M, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra R, Dobyns W, Cohen L, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal P, Beggs A, Yu T. Distruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine. 2021. https://doi.org/10.1038/s41436-021-01114-z

Srivastava S, Macke E, Swanson L, Coulter D, Klee E, Mullegama S, Xie Y, Lanpher B, Bedoukian E, Skraban C, Villard L, Milh M, Leppert M, Cohen J. Expansion of the genotypic and phenotypic spectrum of WASF1-related neurodevelopmental disorder. Brain Sciences. 2021. 11: 931.

Wade E, Jenkins Z, Morgan T, Gimenez G, Gibson H, Peng H, Russo R, Skraban C, Bedoukian E, Robertson S. Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A. 2021. doi: 10.1002/ajmg.a.62424.

Wiessner M, Maroofian R, Ni M, Pedroni A, Muller J, Stucka R, Beetz C, Efthymiou S, Santorelli F, Alfares A, Zhu C, Meszarosova A, Alehabib E, Bakhtiari S, Janecke A, Otero M, Chen J, Peterson J, Strom T, de Jonghe P, Deconinck T, de Ridder W, de Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg B, Portier R, Bergmann C, Firouzabadi S, Jin S, Bilguvar K, Hamed S, Abdelhameed M, Haridy N, Maqhool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood N, Mau-Them D, Haack T, Genomics England Research Consortium, PREPARE network, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Kupper H, Dredge D, Skraban C, Goldstein A, Willis M, Grand K, Graham J, Lewis R, Millan F, Duman O, Dundar N, Uyanik G, Schols L, Nurnberg P, Nurnberg G, Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Boucanova D, Medard J, Chrast R, Auer-Grumbach M, Alkuraya F, Shamseldin H, Al Tala S, Varaghchi J, Najafi M, Deschner S, Glaser D, Huttel W, Kruer M, Kamsteeg E, Takiyama Y, Zuchner S, Baets J, Synofzik M, Schule R, Horvath R, Houlden H, Bartesaghi L, Lee H, Ampatzis K, Pierson T, Senderek J. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain. 2021. 144: 1422-1434.

2020

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, Dechene E, Quinonez SC, Colin E, Zeigler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Cambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubss HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020. 22: 389-397

Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas, RC. Clinical utility of exome sequencing in infantile heart failure. Genet Med. 2020. 22: 423-426.

Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff M, Tarpinian J, Leonard J, Pyle J, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible S, Wilkens A, Spinner N, Skraban C, Krantz I. A centralized approach for practicing genomic medicine. Pediatrics. 2020. 145(3): e20190855.

Ritter A, Werner P, Latney B, Krock BL, Santani A, Bedoukian E, Skraban CM, Deardorff MA, Goldmuntz E. NKX2-6 related congenital heart disease: biallelic homeodomain-disrupting variants and truncus arteriosus. Am J Med Genet Part A. 2020. 182A: 1454-1459.

Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Genomic diagnosis for pediatric disorders: revolution and evolution. Front. Pediatr. 2020. 8: 373.

Strong A, Li D, Mentch F, Bedoukian E, Hartung EA, Meyers K, Skraban C, Wen J, Medne L, Glessner J, Watson D, Krantz I, Hakonarson H. Ciliopathies: coloring outside of the lines. Am J Med Genet. A. 2020. DOI: 10.1002/ajmg.a.62013.

Berecki G, Helbig K, Ware T, Grinton B, Skraban C, Marsh E, Berkovic S, Petrou S. Novel missense CACNA1G mutations associated with infantile-onset developmental and epileptic encephalopathy. International Journal of Molecular Sciences. 2020. 21: 6333.

2019

Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, de Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019. 179(4): 542-551.

Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Deneberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB. Automated clinical exome reanalysis revealed novel diagnoses. J Molec Diagnostics. 2019. 21(1): 38-48.

Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, O’Fallon B, Velinder M, Farrell A, Shen W, Bedoukian E, Skraban CM, Antaya RJ, Henderson K, Pollak J, Treat J, Day R, Jacher J, Hannibal M, Bontempo K, Marth G, Bayrak-Toydemir P, McDonald J. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT). Genet in Med. 2019. 21: 2007-2014.

Cogne B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, van der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjold M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Strong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla OL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk OL, Punetha J, Pfundt R, Lindstrand SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Zong X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomme-Pichon AS, Deciphering Developmental Disorders study, Ferec C, Yang XJ, Stressman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bezieau S, Kury S, Campeau PM. Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndrome intellectual disability. Am J Hum Genet. 2019. 104: 1-12.

Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exom 30 or 31 of CREBBP. Am J Med Genet A. 2019. 179(6): 1058-1062.

Skraban CM, Grand KL, Deardorff MA. WDR26-Related Intellectual Disability. 2019 Apr 25. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.

2018

Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai EH, Bhoj EJ. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Am J Med Genet. 2018. 176: 969-972.

Olsen HE, Jean-Marcais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg E, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, DDD Study, Donadieu J, Narayanan V, Ramsey KM, C4RCD Research Group, Nava C, Riviere J, Vitobello A, Mau-Them FT, Phillippe C, Bruel A, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thauvin-Robinet C. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. Am J Hum Genet. 2018. 102: 1-13. 

Ritter AL, McDougall C, Skraban C, Medne L, Bedoukian EC, Asher SB, Balciuniene J, Campbell CD, Baker SW, Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Variable clinical manifestations of Xia-Gibbs syndrome: findings of consecutively identified cass at a single children’s hospital. Am J Med Genet A. 2018. 176A: 1890-1896.

2017

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center.; Undiagnosed Diseases Network., Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay. Am J Hum Genet. 2017; 100(2): 343-351.

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017. 101(1): 139-148.