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Items: 1 to 50 of 405

1.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K.

Am J Hum Genet. 2019 Sep 30. pii: S0002-9297(19)30348-9. doi: 10.1016/j.ajhg.2019.09.009. [Epub ahead of print]

PMID:
31587868
2.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D.

Genet Med. 2019 Sep 2. doi: 10.1038/s41436-019-0645-4. [Epub ahead of print]

PMID:
31474763
3.

Corrigendum to "The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome" [J. Psychiatr. Res. 92 (2017) 124-131].

Niarchou M, Moore TM, Tang SX, Calkins ME, McDonald-McGuinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE.

J Psychiatr Res. 2019 Nov;118:8. doi: 10.1016/j.jpsychires.2019.08.007. Epub 2019 Aug 21. No abstract available.

PMID:
31445317
4.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

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, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs 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.

Genet Med. 2019 Aug 7. doi: 10.1038/s41436-019-0612-0. [Epub ahead of print]

PMID:
31388190
5.

Phenotype delineation of ZNF462 related syndrome.

Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M.

Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30.

PMID:
31361404
6.

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

Rabin R, Hirsch Y, Johansson MM, Ekstein J, Zeevi DA, Keena B, Zackai EH, Pappas J.

Am J Med Genet A. 2019 Oct;179(10):2144-2151. doi: 10.1002/ajmg.a.61284. Epub 2019 Jul 9.

PMID:
31287223
7.

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E.

Birth Defects Res. 2019 Aug 1;111(13):888-905. doi: 10.1002/bdr2.1534. Epub 2019 Jun 20.

PMID:
31222980
8.

Reanalysis of Clinical Exome Sequencing Data.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
9.

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A.

Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20.

PMID:
31111620
10.

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.

Drivas TG, Taylor JA, Zackai EH.

Am J Med Genet A. 2019 Jun;179(6):1063-1068. doi: 10.1002/ajmg.a.61121. Epub 2019 Mar 28.

PMID:
30924273
11.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné 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, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song 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, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

12.

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.

Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA.

J Autism Dev Disord. 2019 May;49(5):2184-2202. doi: 10.1007/s10803-019-03899-0.

PMID:
30783897
13.

Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.

Van Batavia JP, Crowley TB, Burrows E, Zackai EH, Sanna-Cherchi S, McDonald-McGinn DM, Kolon TF.

Am J Med Genet A. 2019 Mar;179(3):381-385. doi: 10.1002/ajmg.a.61020. Epub 2018 Dec 24.

PMID:
30582277
14.

Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome.

Gao L, Tang SX, Yi JJ, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Calkins ME, Gur RE.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):765-773. doi: 10.1002/ajmg.b.32690. Epub 2018 Nov 16.

PMID:
30444066
15.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.

16.

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Grand K, Levitt Katz LE, Crowley TB, Moss E, Lessig M, Bamba V, Lord K, Zackai EH, Emanuel BS, Valverde K, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2167-2171. doi: 10.1002/ajmg.a.40535.

17.

Neurologic challenges in 22q11.2 deletion syndrome.

Hopkins SE, Chadehumbe M, Blaine Crowley T, Zackai EH, Bilaniuk LT, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2140-2145. doi: 10.1002/ajmg.a.38614. Epub 2018 Oct 26.

PMID:
30365873
18.

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Rayannavar A, Levitt Katz LE, Crowley TB, Lessig M, Grand K, Goldmuntz E, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2099-2103. doi: 10.1002/ajmg.a.40495. Epub 2018 Oct 1.

19.

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2203-2214. doi: 10.1002/ajmg.a.40494. Epub 2018 Sep 23.

20.

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

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.

Am J Med Genet A. 2018 Sep;176(9):1890-1896. doi: 10.1002/ajmg.a.40380. Epub 2018 Aug 27.

PMID:
30152016
21.

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome.

Niarchou M, Chawner SJRA, Fiksinski A, Vorstman JAS, Maeder J, Schneider M, Eliez S, Armando M, Pontillo M, Vicari S, McDonald-McGinn DM, Emanuel BS, Zackai EH, Bearden CE, Shashi V, Hooper SR, Owen MJ, Gur RE, Wray NR, van den Bree MBM, Thapar A; International 22q11.2 Deletion Syndrome Brain and Behavior Consortium.

Schizophr Res. 2019 Feb;204:320-325. doi: 10.1016/j.schres.2018.07.044. Epub 2018 Aug 7.

22.

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.

Le Coz C, Nolan BE, Trofa M, Kamsheh AM, Khokha MK, Lakhani SA, Novelli A, Zackai EH, Sullivan KE, Briuglia S, Bhatti TR, Romberg N.

Front Immunol. 2018 Jul 24;9:1715. doi: 10.3389/fimmu.2018.01715. eCollection 2018.

23.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

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.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

24.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.

Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J.

Am J Med Genet A. 2018 Sep;176(9):1845-1851. doi: 10.1002/ajmg.a.40368. Epub 2018 Jul 28.

PMID:
30055086
25.

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS.

Am J Med Genet A. 2018 Aug;176(8):1735-1741. doi: 10.1002/ajmg.a.38665. Epub 2018 Jul 28.

26.

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.

Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE.

Am J Med Genet A. 2018 Aug;176(8):1711-1722. doi: 10.1002/ajmg.a.38854. Epub 2018 Jul 28.

27.

Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome.

Tang SX, Moberg PJ, Yi JJ, Wiemken AS, Dress EM, Moore TM, Calkins ME, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE, Turetsky BI.

Schizophr Res. 2018 Dec;202:113-119. doi: 10.1016/j.schres.2018.07.012. Epub 2018 Jul 11.

28.

PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Romasko EJ, DeChene ET, Balciuniene J, Akgumus GT, Helbig I, Tarpinian JM, Keena BA, Vogiatzi MG, Zackai EH, Izumi K, Massey SL, Tayoun ANA.

Epilepsy Res. 2018 Sep;145:89-92. doi: 10.1016/j.eplepsyres.2018.06.008. Epub 2018 Jun 18.

PMID:
29933145
29.

Robinow syndrome: a diagnosis at the fingertips.

Murali CN, Keena B, Zackai EH.

Clin Dysmorphol. 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. No abstract available.

30.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trezzi M, Carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B.

Am J Med Genet A. 2018 Oct;176(10):2087-2098. doi: 10.1002/ajmg.a.38662. Epub 2018 Apr 16. Review.

31.

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.

Uyhazi KE, Binenbaum G, Carducci N, Zackai EH, Aleman TS.

Ophthalmic Genet. 2018 Jun;39(3):399-404. doi: 10.1080/13816810.2018.1459735. Epub 2018 Apr 10.

PMID:
29634382
32.

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.

Verheij E, Elden L, Crowley TB, Pameijer FA, Zackai EH, McDonald-McGinn DM, Thomeer HGXM.

AJNR Am J Neuroradiol. 2018 May;39(5):928-934. doi: 10.3174/ajnr.A5588. Epub 2018 Mar 15. Review.

33.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

34.

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.

Kim DS, Li YK, Kim JH, Bergquist CS, Gerdes M, Bernbaum JC, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Nickerson DA, Hakonarson H, Jarvik GP, Gaynor JW.

J Thorac Cardiovasc Surg. 2018 Mar;155(3):1139-1147.e2. doi: 10.1016/j.jtcvs.2017.08.035. Epub 2017 Dec 7.

35.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

Unolt M, Barry J, Digilio MC, Marino B, Bassett A, Oechslin E, Low DW, Belasco JB, Kallish S, Sullivan K, Zackai EH, McDonald-McGinn DM.

Eur J Med Genet. 2018 Jul;61(7):411-415. doi: 10.1016/j.ejmg.2018.02.006. Epub 2018 Feb 12.

PMID:
29447908
36.

Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis.

Xu W, McDonald-McGinn DM, Melchiorre AJ, Zackai EH, Bartlett SP, Taylor JA.

Cleft Palate Craniofac J. 2018 Feb;55(2):296-300. doi: 10.1177/1055665617723918. Epub 2017 Dec 14.

PMID:
29351036
37.

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.

Benn P, Iyengar S, Crowley TB, Zackai EH, Burrows EK, Moshkevich S, McDonald-McGinn DM, Sullivan KE, Demko Z.

Mol Genet Genomic Med. 2017 Nov;5(6):631-638. doi: 10.1002/mgg3.310. Epub 2017 Aug 12.

38.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

Clements CC, Wenger TL, Zoltowski AR, Bertollo JR, Miller JS, de Marchena AB, Mitteer LM, Carey JC, Yerys BE, Zackai EH, Emanuel BS, McDonald-McGinn DM, Schultz RT.

Mol Autism. 2017 Oct 27;8:58. doi: 10.1186/s13229-017-0171-7. eCollection 2017.

39.

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome.

Niarchou M, Calkins ME, Moore TM, Tang SX, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE.

Schizophr Bull. 2018 Jun 6;44(4):824-833. doi: 10.1093/schbul/sbx113.

40.

The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.

Lambert MP, Arulselvan A, Schott A, Markham SJ, Crowley TB, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2121-2127. doi: 10.1002/ajmg.a.38474. Epub 2017 Sep 22. Review.

PMID:
28940864
41.

A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

Mavroudis CD, Seung Kim D, Burnham N, Morss AH, Kim JH, Burt AA, Crosslin DR, McDonald-McGinn DM, Zackai EH, Cohen MS, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Jarvik GP, Gaynor JW.

Cardiol Young. 2018 Jan;28(1):39-45. doi: 10.1017/S1047951117001391. Epub 2017 Sep 20.

PMID:
28927471
42.

White matter microstructural deficits in 22q11.2 deletion syndrome.

Roalf DR, Eric Schmitt J, Vandekar SN, Satterthwaite TD, Shinohara RT, Ruparel K, Elliott MA, Prabhakaran K, McDonald-McGinn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE.

Psychiatry Res Neuroimaging. 2017 Oct 30;268:35-44. doi: 10.1016/j.pscychresns.2017.08.001. Epub 2017 Aug 24.

43.

Emanuel Syndrome.

Emanuel BS, Zackai EH, Medne L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Apr 20 [updated 2017 Aug 31].

44.

A human case of SLC35A3-related skeletal dysplasia.

Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH.

Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4.

PMID:
28777481
45.

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome.

Tang SX, Moore TM, Calkins ME, Yi JJ, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE.

Transl Psychiatry. 2017 Jul 25;7(7):e1180. doi: 10.1038/tp.2017.157.

46.

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.

Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM.

J Clin Immunol. 2017 Jul;37(5):476-485. doi: 10.1007/s10875-017-0403-9. Epub 2017 May 24.

PMID:
28540525
47.

CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.

Luo M, Fan J, Wenger TL, Harr MH, Racobaldo M, Mulchandani S, Dubbs H, Zackai EH, Spinner NB, Conlin LK.

Am J Med Genet A. 2017 Aug;173(8):2101-2107. doi: 10.1002/ajmg.a.38277. Epub 2017 May 15.

PMID:
28504353
48.

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

Niarchou M, Moore TM, Tang SX, Calkins ME, McDonald-McGuinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE.

J Psychiatr Res. 2017 Sep;92:124-131. doi: 10.1016/j.jpsychires.2017.04.006. Epub 2017 Apr 15. Erratum in: J Psychiatr Res. 2019 Nov;118:8.

PMID:
28433949
49.

Association of airway abnormalities with 22q11.2 deletion syndrome.

Sacca R, Zur KB, Crowley TB, Zackai EH, Valverde KD, McDonald-McGinn DM.

Int J Pediatr Otorhinolaryngol. 2017 May;96:11-14. doi: 10.1016/j.ijporl.2017.02.012. Epub 2017 Feb 21.

PMID:
28390597
50.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

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