Suneeta Madan-Khetarpal, MD

Aarabi M, Kessler E, Madan-Khetarpal S, Surti U, Bellissimo D, Rajkovic A, Yatsenko SA. (2019). Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation. Eur J Med Genet. 62: 239-42. .

Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. (2019). DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 21: 2755-64. PMC6895419.

Davis AA, Zuccoli G, Haredy MM, Losee J, Pollack IF, Madan-Khetarpal S, Goldstein JA, Nischal KK. (2019). RASopathy in Patients with Isolated Sagittal Synostosis. Glob Pediatr Health. 6: 2333794X19846774. PMC6540476.

Ghaloul-Gonzalez L, Mohsen AW, Karunanidhi A, Seminotti B, Chong H, Madan-Khetarpal S, Sebastian J, Vockley CW, Reyes-Mugica M, Vander Lugt MT, Vockley J. (2019). Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation. Sci Rep. 9: 15739. PMC6823482.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. (2019). Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 5: eaax2166. PMC6760934.

Kim HG, Rosenfeld JA, Scott DA, Benedicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Ruschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. (2019). Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Mol Autism. 10: 35. PMC6805429.

Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martinez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases N, Campeau PM. (2019). Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet.104: 164-78. PMC6323608.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, Study DDD, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 21: 663-75. PMC6395558.

Hu J, Ou Z, Surti U, Kochmar S, Hoffner L, Madan-Khetarpal S, Arnold GL, Walsh L, Acquaro R, Sebastian J, Yatsenko SA. (2020). Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing. Am J Med Genet A. .

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Gronborg S, Mercier S, Kury S, Bezieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Desir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, Lopez-Otin C, Santiago-Fernandez O, Fernandez-Jaen A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, McDougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Undiagnosed Diseases N, Schoch K, Sullivan JA, Pinto EVF, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM, Jr., Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Perez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gecz J, Jolly LA. (2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling. Biol Psychiatry. 87: 100-12. PMC6925349.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF, Bakshi M, Wilson M, Berman Y, Dickson R, Fransen E, Helsmoortel C, Van den Ende J, Van der Aa N, van de Wijdeven MJ, Rosenblum J, Monteiro F, Kok F, Quercia N, Bowdin S, Dyment D, Chitayat D, Alkhunaizi E, Boonen SE, Keren B, Jacquette A, Faivre L, Bezieau S, Isidor B, Rieß A, Moog U, Lynch SA, McVeigh T, Elpeleg O, Smeland MF, Fannemel M, van Haeringen A, Maas SM, Veenstra-Knol HE, Schouten M, Willemsen MH, Marcelis CL, Ockeloen C, van der Burgt I, Feenstra I, van der Smagt J, Jezela-Stanek A, Krajewska-Walasek M, González-Lamuño D, Anderlid BM, Malmgren H, Nordenskjöld M, Clement E, Hurst J, Metcalfe K, Mansour S, Lachlan K, Clayton-Smith J, Hendon LG, Abdulrahman OA, Morrow E, McMillan C, Gerdts J, Peeden J, Schrier Vergano SA, Valentino C, Chung WK, Ozmore JR, Bedrosian-Sermone S, Dennis A, Treat K, Hughes SS, Safina N, Le Pichon JB, McGuire M, Infante E, Madan-Khetarpal S, Desai S, Benke P, Krokosky A, Cristian I, Baker L, Gripp K, Stessman HA, Eichenberger J, Jayakar P, Pizzino A, Manning MA, Slattery L.  Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.  Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. PMC6139063.