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283 results

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Page 1
Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.
Eom TY, Schmitt JE, Li Y, Davenport CM, Steinberg J, Bonnan A, Alam S, Ryu YS, Paul L, Hansen BS, Khairy K, Pelletier S, Pruett-Miller SM, Roalf DR, Gur RE, Emanuel BS, McDonald-McGinn DM, Smith JN, Li C, Christie JM, Northcott PA, Zakharenko SS. Eom TY, et al. Among authors: mcdonald mcginn dm. Nat Commun. 2024 Dec 5;15(1):10510. doi: 10.1038/s41467-024-54837-3. Nat Commun. 2024. PMID: 39638997 Free PMC article.
Hearing Loss in Children with 22q11.2 Deletion Syndrome.
Arganbright J, Crowley TB, Tracy M, Noel-MacDonnell J, Gaiser K, Yaktine L, Moore A, Hamm J, Morrow B, Song H, Giunta V, McGinn DE, Zackai EH, Emanuel B, Elden L, Narayanan S, Raje N, McDonald-McGinn DM. Arganbright J, et al. Among authors: mcdonald mcginn dm. Laryngoscope. 2024 Sep 21. doi: 10.1002/lary.31777. Online ahead of print. Laryngoscope. 2024. PMID: 39305214
Expanding Genetic Counselor Roles: A Model for Global Research Development.
Muraresku CC, McCormick EM, Rockart L, Blaine Crowley T, Asher S, Back A, Baldino SM, Bedoukian E, Britt AD, Burrill N, Cacioppo C, Clark DF, Clark ME, Conway L, Dratch L, Dubbs HA, Engelhardt NM, Ginn N, Gray C, Hartman T, Hathaway ER, Helbig KL, Hoffman-Andrews L, Kasperski S, Keena BA, Keller KN, Long JM, Lulis L, Lusk L, McGinn DE, Mueller R, Paul RA, Pilchman L, Powers J, Raible SE, Reichert S, Rippert AL, Arnold AG, Ruggiero SM, Schindewolf E, Sullivan KR, Terek S, Wang B, Wells M, Wisniewski N, Wright R, Wood EM, Woyciechowski S, Zelley K, Valverde KD, McDonald-McGinn DM. Muraresku CC, et al. Among authors: mcdonald mcginn dm. Genes (Basel). 2024 Jul 1;15(7):867. doi: 10.3390/genes15070867. Genes (Basel). 2024. PMID: 39062646 Free PMC article.
Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.
Gur RC, Bearden CE, Jacquemont S, Swillen A, van Amelsvoort T, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher RS, McClellan E, White L, Crowley TB, Giunta V, Kushan L, O'Hora K, Verbesselt J, Vandensande A, Vingerhoets C, van Haelst M, Hall J, Harwood J, Chawner SJRA, Patel N, Palad K, Hong O, Guevara J, Martin CO, Jizi K, Bélanger AM, Scherer SW, Bassett AS, McDonald-McGinn DM, Gur RE. Gur RC, et al. Among authors: mcdonald mcginn dm. Mol Psychiatry. 2024 Jul 24. doi: 10.1038/s41380-024-02661-y. Online ahead of print. Mol Psychiatry. 2024. PMID: 39048645
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.
Roalf DR, McDonald-McGinn DM, Jee J, Krall M, Crowley TB, Moberg PJ, Kohler C, Calkins ME, Crow AJD, Fleischer N, Gallagher RS, Gonzenbach V, Clark K, Gur RC, McClellan E, McGinn DE, Mordy A, Ruparel K, Turetsky BI, Shinohara RT, White L, Zackai E, Gur RE. Roalf DR, et al. Among authors: mcdonald mcginn dm. J Neurodev Disord. 2024 Jun 25;16(1):35. doi: 10.1186/s11689-024-09547-8. J Neurodev Disord. 2024. PMID: 38918700 Free PMC article.
The clinical course of individuals with 22q11.2 deletion syndrome converting to psychotic disorders: a long-term retrospective follow-up.
Kulikova K, Schneider M, McDonald McGinn DM, Dar S, Taler M, Schwartz-Lifshitz M, Eliez S, Gur RE, Gothelf D. Kulikova K, et al. Among authors: mcdonald mcginn dm. Eur Child Adolesc Psychiatry. 2024 Dec;33(12):4371-4379. doi: 10.1007/s00787-024-02469-9. Epub 2024 Jun 4. Eur Child Adolesc Psychiatry. 2024. PMID: 38834873
The mental health and traumatic experiences of mothers of children with 22q11DS.
Finless A, Rideout AL, Xiong T, Carbyn H, Lingley-Pottie P, Palmer LD, Shugar A, McDonald-McGinn DM, McGrath PJ, Bassett AS, Cytrynbaum C, Orr M, Swillen A, Meier S. Finless A, et al. Among authors: mcdonald mcginn dm. Eur J Psychotraumatol. 2024;15(1):2353532. doi: 10.1080/20008066.2024.2353532. Epub 2024 May 23. Eur J Psychotraumatol. 2024. PMID: 38780146 Free PMC article.
22q11.2 Deletion Syndrome.
McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. 1999 Sep 23 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Sep 23 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301696 Free Books & Documents. Review.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: mcdonald mcginn dm. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Goldmuntz E, Bassett AS, Boot E, Marino B, Moldenhauer JS, Óskarsdóttir S, Putotto C, Rychik J, Schindewolf E, McDonald-McGinn DM, Blagowidow N. Goldmuntz E, et al. Among authors: mcdonald mcginn dm. Prenat Diagn. 2024 Jun;44(6-7):804-814. doi: 10.1002/pd.6566. Epub 2024 Apr 9. Prenat Diagn. 2024. PMID: 38593251 Review.
283 results