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1.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata J M; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A.

Am J Hum Genet ; 108(1): 8-15, 2021 01 07.

Article in English | MEDLINE | ID: mdl-33417889

2.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

Quintero-Rivera, Fabiola; Eno, Celeste C; Sutanto, Christine; Jones, Kelly L; Nowaczyk, Malgorzata J M; Wong, Derek; Earl, Dawn; Mirzaa, Ghayda; Beck, Anita; Martinez-Agosto, Julian A.

Hum Genet ; 140(4): 681-690, 2021 Apr.

Article in English | MEDLINE | ID: mdl-33389145

3.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Bennett, James T; Tan, Tiong Yang; Alcantara, Diana; Tétrault, Martine; Timms, Andrew E; Jensen, Dana; Collins, Sarah; Nowaczyk, Malgorzata J M; Lindhurst, Marjorie J; Christensen, Katherine M; Braddock, Stephen R; Brandling-Bennett, Heather; Hennekam, Raoul C M; Chung, Brian; Lehman, Anna; Su, John; Ng, SuYuen; Amor, David J; Majewski, Jacek; Biesecker, Les G; Boycott, Kym M; Dobyns, William B; O'Driscoll, Mark; Moog, Ute; McDonell, Laura M.

Am J Hum Genet ; 98(3): 579-587, 2016 Mar 03.

Article in English | MEDLINE | ID: mdl-26942290

4.

Response to Hamosh et al.

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata J M; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A.

Am J Hum Genet ; 108(9): 1809-1810, 2021 09 02.

Article in English | MEDLINE | ID: mdl-34478656

5.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo, Lucilla; Jensen, Matthew; Polyak, Andrew; Rosenfeld, Jill A; Mannik, Katrin; Krishnan, Arjun; McCready, Elizabeth; Pichon, Olivier; Le Caignec, Cedric; Van Dijck, Anke; Pope, Kate; Voorhoeve, Els; Yoon, Jieun; Stankiewicz, Pawel; Cheung, Sau Wai; Pazuchanics, Damian; Huber, Emily; Kumar, Vijay; Kember, Rachel L; Mari, Francesca; Curró, Aurora; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandarà, Luana; Vincent, Marie; Nizon, Mathilde; Mercier, Sandra; Bénéteau, Claire; Blesson, Sophie; Martin-Coignard, Dominique; Mosca-Boidron, Anne-Laure; Caberg, Jean-Hubert; Bucan, Maja; Zeesman, Susan; Nowaczyk, Malgorzata J M; Lefebvre, Mathilde; Faivre, Laurence; Callier, Patrick; Skinner, Cindy; Keren, Boris; Perrine, Charles; Prontera, Paolo; Marle, Nathalie; Renieri, Alessandra; Reymond, Alexandre; Kooy, R Frank; Isidor, Bertrand.

Genet Med ; 21(4): 816-825, 2019 04.

Article in English | MEDLINE | ID: mdl-30190612

6.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R; Cytrynbaum, Cheryl; Axford, Michelle M; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, Malgorzata J M; Walker, Susan; Scherer, Stephen W; Nassif, Christina; Hamdan, Fadi F; Deal, Cheri L; Soucy, Jean-François; Weksberg, Rosanna; Macleod, Patrick; Michaud, Jacques L; Chitayat, David.

J Med Genet ; 55(5): 316-321, 2018 05.

Article in English | MEDLINE | ID: mdl-29599419

7.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C M; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata J M; Klein Wassink-Ruiter, Jolien S; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J.

Am J Hum Genet ; 96(3): 462-73, 2015 Mar 05.

Article in English | MEDLINE | ID: mdl-25683120

8.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Lowther, Chelsea; Speevak, Marsha; Armour, Christine M; Goh, Elaine S; Graham, Gail E; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata J M; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Rob; Bikangaga, Peter; Samdup, Dawa; Zaazou, Mostafa; Boyd, Kerry; Jung, Jack H; Siu, Victoria; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A; Prasad, Chitra; Dick, Paul T; Hussain, Asmaa S; Walinga, Margreet; Reijenga, Renske G; Gazzellone, Matthew; Lionel, Anath C; Marshall, Christian R; Scherer, Stephen W; Stavropoulos, Dimitri J; McCready, Elizabeth; Bassett, Anne S.

Genet Med ; 19(1): 53-61, 2017 01.

Article in English | MEDLINE | ID: mdl-27195815

9.

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Nowaczyk, Malgorzata J M; Huang, Lijia; Tarnopolsky, Mark; Schwartzentruber, Jeremy; Majewski, Jacek; Bulman, Dennis E; Hartley, Taila; Boycott, Kym M.

Am J Med Genet A ; 173(1): 126-134, 2017 Jan.

Article in English | MEDLINE | ID: mdl-27633801

10.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Dauber, Andrew; Golzio, Christelle; Guenot, Cécile; Jodelka, Francine M; Kibaek, Maria; Kjaergaard, Susanne; Leheup, Bruno; Martinet, Danielle; Nowaczyk, Malgorzata J M; Rosenfeld, Jill A; Zeesman, Susan; Zunich, Janice; Beckmann, Jacques S; Hirschhorn, Joel N; Hastings, Michelle L; Jacquemont, Sebastien; Katsanis, Nicholas.

Am J Hum Genet ; 93(5): 798-811, 2013 Nov 07.

Article in English | MEDLINE | ID: mdl-24140112

11.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood, Rebecca L; Lines, Matthew A; Nikkel, Sarah M; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Malgorzata J M; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L; Quaio, Caio Robledo D C; Gomy, Israel; Bertola, Debora R; Albrecht, Beate; Platzer, Konrad; McGillivray, George; Zou, Ruobing; McLeod, D Ross; Chudley, Albert E; Chodirker, Bernard N; Marcadier, Janet; Majewski, Jacek; Bulman, Dennis E; White, Susan M; Boycott, Kym M.

Am J Hum Genet ; 90(2): 308-13, 2012 Feb 10.

Article in English | MEDLINE | ID: mdl-22265015

12.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

De Rocker, Nina; Vergult, Sarah; Koolen, David; Jacobs, Eva; Hoischen, Alexander; Zeesman, Susan; Bang, Birgitte; Béna, Frédérique; Bockaert, Nele; Bongers, Ernie M; de Ravel, Thomy; Devriendt, Koenraad; Giglio, Sabrina; Faivre, Laurence; Joss, Shelagh; Maas, Saskia; Marle, Nathalie; Novara, Francesca; Nowaczyk, Malgorzata J M; Peeters, Hilde; Polstra, Abeltje; Roelens, Filip; Rosenberg, Carla; Thevenon, Julien; Tümer, Zeynep; Vanhauwaert, Suzanne; Varvagiannis, Konstantinos; Willaert, Andy; Willemsen, Marjolein; Willems, Marjolaine; Zuffardi, Orsetta; Coucke, Paul; Speleman, Frank; Eichler, Evan E; Kleefstra, Tjitske; Menten, Björn.

Genet Med ; 17(6): 460-6, 2015 Jun.

Article in English | MEDLINE | ID: mdl-25232846

13.

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.

Abdelgadir, Dalal; Nowaczyk, Malgorzata J M; Li, Chumei.

Am J Med Genet A ; 161A(5): 1126-31, 2013 May.

Article in English | MEDLINE | ID: mdl-23529842

14.

Narrative medicine: a call to pens.

Nowaczyk, Malgorzata J M; Carey, John C.

Am J Med Genet A ; 161A(9): 2117-8, 2013 Sep.

Article in English | MEDLINE | ID: mdl-23897693

15.

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

Wang, David; Zeesman, Susan; Tarnopolsky, Mark A; Nowaczyk, Malgorzata J M.

Am J Med Genet A ; 161A(8): 2016-9, 2013 Aug.

Article in English | MEDLINE | ID: mdl-23794269

16.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica; Gripp, Karen W; Anderson, Carol; Aylsworth, Arthur S; Saad, Taha Ben; Chizhikov, Victor V; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, Elizabeth; Huggins, Marlene; Ladda, Roger; Li, Chumei; Moeschler, John; Nowaczyk, Malgorzata J M; Ozmore, Jillian R; Reitano, Santina; Romano, Corrado; Roos, Laura; Schnur, Rhonda E; Sell, Susan; Suwannarat, Pim; Svaneby, Dea; Szybowska, Marta; Tarnopolsky, Mark; Tervo, Raymond; Tsai, Anne Chun-Hui; Tucker, Megan; Vallee, Stephanie; Wheeler, Ferrin C; Zand, Dina J; Barkovich, A James; Aradhya, Swaroop; Shaffer, Lisa G; Dobyns, William B.

Am J Med Genet A ; 161A(8): 1833-52, 2013 Aug.

Article in English | MEDLINE | ID: mdl-23813913

17.

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz, Ian D; McCallum, Jennifer; DeScipio, Cheryl; Kaur, Maninder; Gillis, Lynette A; Yaeger, Dinah; Jukofsky, Lori; Wasserman, Nora; Bottani, Armand; Morris, Colleen A; Nowaczyk, Malgorzata J M; Toriello, Helga; Bamshad, Michael J; Carey, John C; Rappaport, Eric; Kawauchi, Shimako; Lander, Arthur D; Calof, Anne L; Li, Hui-Hua; Devoto, Marcella; Jackson, Laird G.

Nat Genet ; 36(6): 631-5, 2004 Jun.

Article in English | MEDLINE | ID: mdl-15146186

18.

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.

Nowaczyk, Malgorzata J M; Cunniff, Christopher.

Am J Med Genet C Semin Med Genet ; 160C(4): 239-41, 2012 Nov 15.

Article in English | MEDLINE | ID: mdl-23042602

19.

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Nowaczyk, Malgorzata J M; Irons, Mira B.

Am J Med Genet C Semin Med Genet ; 160C(4): 250-62, 2012 Nov 15.

Article in English | MEDLINE | ID: mdl-23059950

20.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Campbell, Ian M; Yatsenko, Svetlana A; Hixson, Patricia; Reimschisel, Tyler; Thomas, Matthew; Wilson, William; Dayal, Usha; Wheless, James W; Crunk, Amy; Curry, Cynthia; Parkinson, Nicole; Fishman, Leona; Riviello, James J; Nowaczyk, Malgorzata J M; Zeesman, Susan; Rosenfeld, Jill A; Bejjani, Bassem A; Shaffer, Lisa G; Cheung, Sau Wai; Lupski, James R; Stankiewicz, Pawel; Scaglia, Fernando.

Genet Med ; 14(10): 868-76, 2012 Oct.

Article in English | MEDLINE | ID: mdl-22722545

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