Department of Pediatrics

Clinical Interests

I am a clinical genetic specialist. My focus is on genetic skeletal dysplasia and bone diseases, congenital malformation syndromes, chromosomal disorders, microarray analysis, whole exome sequencing, autistic spectrum disorders, metabolic disorders, newborn screen for inborn error of metabolism.

Education

• BS, Cum Laude , Hebrew University of Jerusalem, 1989
• MD, Summa Cum Laude, Technion-Faculty of Medicine , 1996

Training

• Residency, Rambam Medical Center, 1996 - 2000
• Post Doc, Baylor College of Medicine, 2001 - 2002
• Fellowship, Baylor College of Medicine, 2003 - 2005

Licensure and Board Certification

• 2000 - PresIsraeli Board of Pediatrics
• 2005 - 2009TX, Texas Medical License
• 2005 - PresClinical Genetics (Recertification 2015)
• 2009 - PresMO, Missouri State Board of Registration for the Healing Arts
• 2009 - PresMedical Biochemical Genetics

Honors and Awards

• B.Sc. in Biology (Cum Laude), 1990
• Dean's Award in faculty of medicine, 1990
• Dean's Award in faculty of medicine, 1991
• Dean's Award in faculty of medicine, 1992
• M.D. Diploma (Summa Cum Laude), 1996
• M.D. Thesis (Cum Laude), 1996
• Outstanding tutor of medical students in pediatrics, 1998
• Board Examination in Pediatrics (Cum Laude), 2000
• Cure Autism Now Young Investigator Award, 2005 - 2007
• The Simons Young Investigator Award at Columbia University, 2005 - 2007
• K12 award-Child Health Research Center (Baylor College of Medicine), 2007 - 2008

Recent Publications view all (133)

Publication Co-Authors

James Kemp, M.D.

Marcia C. Willing, M.D., Ph. D.

Dustin Baldridge

Todd Druley, M.D., Ph.D.

Philip Levy, M.D.

Barbara B. Warner, M.D., MSc

Jennifer A Wambach, M.D.

Thomas Ferkol, M.D.

Elizabeth C. Utterson, M.D.

Jorge L Granadillo

Dennis J. Dietzen, Ph.D.

Katherine Rivera-Spoljaric, M.D., MSCI

David B. Wilson, M.D., Ph.D.

Cori Grant

Avraham Beigelman, M.D.

Dorothy Katherine Grange, M.D.

Beth A. Kozel, M.D., Ph.D.

Ana María Arbeláez, M.D. MSCI

Scott Saunders, M.D., Ph.D.

Jennifer N. Avari Silva, M.D.

R. Mark Grady, M.D.

Bess A. Marshall, M.D.

Abby Hollander, M.D.

Robert J. Hayashi, M.D.

Francis Sessions Cole, III, M.D.

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Marwan Shinawi, M.D.

1. Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group., Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019;10(1):3094. PMID:31300657 
2. Dyment DA, Terhal PA, Rustad CF, Tveten K, Griffith C, Jayakar P, Shinawi M, Ellingwood S, Smith R, van Gassen K, McWalter K, Innes AM, Lines MA. De novo substitutions of TRPM3 cause intellectual disability and epilepsy. Eur J Hum Genet. 2019. PMID:31278393 
3. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, DDD Study., Sticht H, Gregor A, Van Esch H, Zweier C. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019. PMID:31239556 
4. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WE, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019;13:394. PMCID:PMC6517487  PMID:31133775 
5. Schweitzer GG, Gan C, Bucelli RC, Wegner D, Schmidt RE, Shinawi M, Finck BN, Brookheart RT. A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema. Mol Genet Genomic Med. 2019;e733. PMID:31070020 
6. Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M, Graham JM Jr, Verma S, Waggoner D, Shinawi M, Bönnemann CG, Chung WK, Chinnadurai G. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019. PMID:31041561 
7. Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M. Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019. PMID:30976111 
8. Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019;11(1):60. PMCID:PMC6454695  PMID:30961659 
9. Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019. PMID:30982611 
10. Sandler-Wilson C, Wambach JA, Marshall BA, Wegner DJ, McAlister W, Cole FS, Shinawi M. Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. Bone. 2019;124:14-21. doi:10.1016/j.bone.2019.03.029  PMCID:PMC6551519  PMID:30914273 
11. Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Am J Hum Genet. 2019. PMID:30827498 
12. Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019. doi:10.1038/s41436-019-0454-9  PMID:30739909 
13. Shinawi MS, Alpern R, Toomey R, Dannenfeldt DS, Reda D, Blanchard M. Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination. J Occup Environ Med. 2018. PMID:30489351 
14. Thompson E, Abdalla E, Superti-Furga A, McAlister W, Kratz L, Unger S, Royer-Bertrand B, Campos-Xavier B, Mittaz-Crettol L, Amin AK, DeSanto C, Wilson DB, Douglas G, Kozel B, Shinawi M. Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. Bone. 2018;120:354-363. PMID:30448303 
15. Bamaga AK, Maamari RN, Culican SM, Shinawi M, Golumbek PT. Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. Neurology. 2018;91(20):938-941. PMID:30420458 
16. Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Bijvank SWAN, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018. PMID:30157302 
17. Groves AP, Gettinger K, Druley TE, A Kozel B, Shinawi M, Mohrmann C, Henry J, Jacobi C, Trinkaus K, Hayashi RJ. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. J Pediatr Hematol Oncol. 2018. PMID:30028825 
18. Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian Genomics., DDD Study., Reis A, Sticht H, Zweier C. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet. 2018. PMID:30057029 
19. Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018. PMID:29985992 
20. Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain. 2018. PMID:29878067 
21. Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMID:29967526 
22. Siller AF, Shimony A, Shinawi M, Amarillo I, Dehner LP, Semenkovich K, Arbeláez AM. Inherited Deletion of 1q, Hyperparathyroidism, and Signs of Y-Chromosomal Influence in a Patient with Turner Syndrome. J Clin Res Pediatr Endocrinol. 2018. PMID:29739732 
23. Vanegas S, Ramirez-Montaño D, Candelo E, Shinawi M, Pachajoa H. DeSanto-Shinawi Syndrome: First Case in South America. Mol Syndromol. 2018;9(3):154-158. PMCID:PMC6006642  PMID:29928181 
24. Brereton E, Fassi E, Araujo GC, Dodd J, Telegrafi A, Pathak SJ, Shinawi M. Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities. Mol Genet Genomic Med. 2018. PMID:29397573 
25. Otaify GA, Whyte MP, Gottesman GS, McAlister WH, Eric Gordon J, Hollander A, Andrews MV, El-Mofty SK, Chen WS, Veis DV, Stolina M, Woo AS, Katsonis P, Lichtarge O, Zhang F, Shinawi M. Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018;107:161-171. PMID:29175271 
26. White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics., Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2017. PMID:29276006 
27. Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum Mutat. 2017;38(11):1477-1484. PMCID:PMC5638693  PMID:28726266 
28. Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, Shinawi M. CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature. Child Neurol Open. 2017;4:2329048X17733214. PMCID:PMC5638153  PMID:29051910 
29. Shen W, Heeley JM, Carlston CM, Acuna-Hidalgo R, Nillesen WM, Dent KM, Douglas GV, Levine KL, Bayrak-Toydemir P, Marcelis CL, Shinawi M, Carey JC. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Am J Med Genet A. 2017. PMID:28941052 
30. Norris SA, Pogarcic A, Hicks M, Perlmutter JS, Shinawi M. Adult-onset dystonia with marfanoid features. Neurol Clin Pract. 2017;7(4):e31-e34. PMCID:PMC5566795  PMID:28840904 
31. Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017;19(8):962. PMID:28777376 
32. Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017. PMID:28649782 
33. Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
34. Hirose K, Shinawi M. Support for the Diagnosis of CHARGE Syndrome-Reply. JAMA Otolaryngol Head Neck Surg. 2017. PMID:28241177 
35. Spencer DH, Russler-Germain DA, Ketkar S, Helton NM, Lamprecht TL, Fulton RS, Fronick CC, O'Laughlin M, Heath SE, Shinawi M, Westervelt P, Payton JE, Wartman LD, Welch JS, Wilson RK, Walter MJ, Link DC, DiPersio JF, Ley TJ. CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression. Cell. 2017;168(5):801-816.e13. PMCID:PMC5328582  PMID:28215704 
36. Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. J Clin Endocrinol Metab. 2017;102(2):460-469. PMCID:PMC5413162  PMID:27870580 
37. Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Greb T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP. The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2016. PMID:27853923 
38. Parente DJ, Garriga C, Baskin B, Douglas G, Cho MT, Araujo GC, Shinawi M. Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity. Am J Med Genet A. 2016. PMID:27865048 
39. Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. JAMA Otolaryngol Head Neck Surg. 2016. PMID:27832265 
40. Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. cprFBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2016. PMID:27743463 
41. Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Le Goff LK, Fasano L. TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. Nat Genet. 2016. PMID:27668656 
42. Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016. doi:10.1007/s10048-016-0482-4  PMID:27094857 
43. Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016. doi:10.1038/gim.2016.18  PMID:26986877 
44. Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-62. doi:10.1212/WNL.0000000000002457  PMID:26865513 
45. Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Genet A. 2016;170(3):583-93. doi:10.1002/ajmg.a.37445  PMID:26601658 
46. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016;98(2):347-57. doi:10.1016/j.ajhg.2015.12.008  PMCID:PMC4746334  PMID:26805781 
47. Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet. 2015;52(9):627-35. doi:10.1136/jmedgenet-2015-103140  PMID:26185144 
48. DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD Study, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015. doi:10.1136/jmedgenet-2015-103069  PMID:26264232 
49. Calì T, Lopreiato R, Shimony J, Vineyard M, Frizzarin M, Zanni G, Zanotti G, Brini M, Shinawi M, Carafoli E. A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations. J Biol Chem. 2015;290(26):16132-41. doi:10.1074/jbc.M115.656496  PMCID:PMC4481214  PMID:25953895 
50. Fleischer J, Shenoy A, Goetzinger K, Cottrell CE, Baldridge D, White FV, Shinawi M. Digynic triploidy: utility and challenges of noninvasive prenatal testing. Clin Case Rep. 2015;3(6):406-10. doi:10.1002/ccr3.247  PMCID:PMC4498852  PMID:26185638 
51. Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015;96(4):682-90. doi:10.1016/j.ajhg.2015.02.013  PMCID:PMC4385182  PMID:25839329 
52. Heeley J, Shinawi M. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations. Am J Med Genet A. 2015. doi:10.1002/ajmg.a.36889  PMID:25707956 
53. Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015;372(4):341-50. doi:10.1056/NEJMoa1406829  PMCID:PMCID: PMC4326244  PMID:25564734 
54. Hucthagowder V, Shinawi M, Lockwood CM. A 5-month-old boy with delay in growth and development and decreased muscle tone. Clin Chem. 2015;61(1):50-4. doi:10.1373/clinchem.2014.228486  PMID:25550475 
55. Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014;95(5):565-78. doi:10.1016/j.ajhg.2014.10.006  PMCID:PMC4225592  PMID:25439725 
56. Farmakis SG, Shinawi M, Miller-Thomas M, Radmanesh A, Herman TE. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. Skeletal Radiol. 2014. doi:10.1007/s00256-014-1983-6  PMCID:In Process  PMID:25119967 
57. Filges I, Sparagana S, Sargent M, Selby K, Schlade-Bartusiak K, Lueder GT, Robichaux-Viehoever A, Schlaggar BL, Shimony JS, Shinawi M. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. Am J Med Genet A. 2014;164(8):2003-12. doi:10.1002/ajmg.a.36605  PMCID:In process  PMID:24891046 
58. Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M. Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. Int J Neurosci. 2014. doi:10.3109/00207454.2014.904858  PMCID:In Process  PMID:24628582 
59. Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2014. doi:10.1111/cge.12407  PMID:24738973 
60. Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014;537(2):279-84. doi:10.1016/j.gene.2013.12.045  PMID:24378232 
61. Chuen-im P, Marwan S, Carter J, Kemp J, Rivera-Spoljaric K. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations. Pediatr Pulmonol. 2014;49(2):E13-6. doi:10.1002/ppul.22731  PMID:23460419 
62. Al-Kateb H, Khanna G, Filges I, Hauser N, Grange DK, Shen J, Smyser CD, Kulkarni S, Shinawi M. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A. 2014;164A(5):1118-1126. doi:10.1002/ajmg.a.36401  PMCID:in Process  PMID:24458548 
63. Miller NB, Beigelman A, Utterson E, Shinawi M. Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome. JIMD Rep. 2014;12:11-5. doi:10.1007/8904_2013_238  PMCID:PMC3897788  PMID:23821320 
64. Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR, Shinawi M. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet. 2013. doi:10.1111/cge.12305  PMID:24246242 
65. Perlman SJ, Kulkarni S, Manwaring L, Shinawi M. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. Am J Med Genet A. 2013;161(4):711-6. doi:10.1002/ajmg.a.35779  PMID:23494996 
66. Al-Kateb H, Shimony JS, Vineyard M, Manwaring L, Kulkarni S, Shinawi M. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet A. 2013;161A(2):377-81. doi:10.1002/ajmg.a.35650  PMID:23300014 
67. Mills KI, Anderson J, Levy PT, Cole FS, Silva JN, Kulkarni S, Shinawi M. Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome. Am J Med Genet A. 2013;161A(1):137-44. doi:10.1002/ajmg.a.35701  PMID:23239491 
68. Schroer RJ, Beaudet AL, Shinawi M, Sahoo T, Patel A, Sun Q, Skinner C, Stevenson RE. Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. Am J Med Genet A. 2012;158A(10):2602-5. doi:10.1002/ajmg.a.35566  PMCID:PMC3448824  PMID:22965764 
69. Anyaegbu E, Goodman M, Ahn SY, Thangarajh M, Wong M, Shinawi M. Acute intermittent porphyria: a diagnostic challenge. J Child Neurol. 2012;27(7):917-21. doi:10.1177/0883073811427603  PMID:22190498 
70. Berk DR, Armstrong NL, Shinawi M, Whelan AJ. ADULT syndrome due to an R243W mutation in TP63. Int J Dermatol. 2012;51(6):693-6. doi:10.1111/j.1365-4632.2011.05375.x  PMID:22607287 
71. Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012;109(21):7974-81. doi:10.1073/pnas.1120210109  PMCID:PMC3361440  PMID:22566635 
72. Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012;33(1):165-79. doi:10.1002/humu.21614  PMID:21948486 
73. Shinawi M, Dietzen DJ, White FV, Sprietsma L, Weymann A. Early-onset hepatic fibrosis in lysinuric protein intolerance. J Pediatr Gastroenterol Nutr. 2011;53(6):695-8. doi:10.1097/MPG.0b013e318227b02d  PMID:21716135 
74. Oladipo O, Rosenblatt DS, Watkins D, Miousse IR, Sprietsma L, Dietzen DJ, Shinawi M. Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient. Pediatrics. 2011;128(6):e1636-40. doi:10.1542/peds.2010-3518  PMID:22065268 
75. Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011;155A(7):1597-604. doi:10.1002/ajmg.a.34040  PMID:21671375 
76. Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, Zascavage R, Peters SU, Patel A, Stevenson RE, Beaudet AL. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A. 2011;155A(6):1272-80. doi:10.1002/ajmg.a.33878  PMID:21567907 
77. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011;20(10):1975-88. doi:10.1093/hmg/ddr078  PMCID:PMC3080608  PMID:21355048 
78. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, Rossi A, Whiteman DA, Kimura A. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011;13(2):95-101. doi:10.1097/GIM.0b013e3181fea459  PMID:21150784 
79. Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet. 2011;19(2):152-6. doi:10.1038/ejhg.2010.168  PMCID:PMC3025795  PMID:20959866 
80. Khanna G, Kantawala K, Shinawi M, Sarwate S, Dehner LP. McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses. Pediatr Radiol. 2010;40 Suppl 1:S16-20. doi:10.1007/s00247-010-1762-z  PMID:20607225 
81. Oladipo O, Spreitsma L, Dietzen DJ, Shinawi M. Increased homocysteine in a patient diagnosed with Marfan syndrome. Clin Chem. 2010;56(11):1665-8. doi:10.1373/clinchem.2010.147702  PMID:21030686 
82. Mendez-Figueroa H, Shchelochkov OA, Shaibani A, Aagaard-Tillery K, Shinawi MS. Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. J Perinatol. 2010;30(8):558-62. doi:10.1038/jp.2009.198  PMID:20668464 
83. Shinawi M, Cain MP, Vanderbrink BA, Grignon DJ, Mensing D, Cooper ML, Bader P, Cheung SW. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? Am J Med Genet A. 2010;152A(7):1832-7. doi:10.1002/ajmg.a.33475  PMID:20583182 
84. Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010;31(7):840-50. doi:10.1002/humu.21284  PMCID:PMC3162316  PMID:20506139 
85. Moran NF, Baine M, Bax BE. Mitochondrial neurogastrointestinal encephalopathy without elevated thymidine levels. Arch Neurol. 2010;67(5):644; author reply 644-5. doi:10.1001/archneurol.2010.73  PMID:20457971 
86. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47(5):332-41. doi:10.1136/jmg.2009.073015  PMCID:PMC3158566  PMID:19914906 
87. Brunetti-Pierri N, Shaibani A, Zhang S, Wong LJ, Shinawi M. Progressive myopathy with multiple symmetric lipomatosis. Arch Neurol. 2009;66(12):1576-7. doi:10.1001/archneurol.2009.239  PMID:20008669 
88. Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009;41(12):1269-71. doi:10.1038/ng.481  PMCID:PMC3158565  PMID:19898479 
89. Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009;46(12):825-33. doi:10.1136/jmg.2009.067637  PMID:19584063 
90. Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009;66(8):1028-32. doi:10.1001/archneurol.2009.139  PMCID:PMC2747647  PMID:19667227 
91. Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41(7):829-32. doi:10.1038/ng.373  PMID:19525956 
92. Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F. The Xp contiguous deletion syndrome and autism. Am J Med Genet A. 2009;149A(6):1138-48. doi:10.1002/ajmg.a.32833  PMID:19441126 
93. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009;46(6):382-8. doi:10.1136/jmg.2008.064378  PMCID:PMC2776649