Search | Virtual Health Library

1.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M S; Giltay, Jacques C; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E; Wentzensen, Ingrid M; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W; Faurie, Eva; Schot, Rachel; Stevens, Cathy A; Smits, Daphne J; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A; Stimach, Chandler L; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H; Hurst, Anna C E; Smith, Kirstin; Baugh, Evan H; Bohm, Suzanne G; Vyhnálková, Emílie; Ryba, Lukás; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I; Smith, Ann C M.

Am J Hum Genet ; 109(2): 361-372, 2022 02 03.

Article in English | MEDLINE | ID: mdl-35051358

2.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A; Tooke, Lloyd; Van der Zee, Jill A; Van Genderen, Maria M; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H M; Cueto-González, Anna M; Dominguez-Garrido, Elena; Duijkers, Floor A; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N; Smith, David F; Stevens, Markus F; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C M; Van Wijk, Michiel P; Vyshka, Klea.

J Med Genet ; 61(6): 503-519, 2024 May 21.

Article in English | MEDLINE | ID: mdl-38471765

3.

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

4.

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R.

Prenat Diagn ; 44(2): 237-246, 2024 02.

Article in English | MEDLINE | ID: mdl-37632214

5.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

El Ghaleb, Yousra; Schneeberger, Pauline E; Fernández-Quintero, Monica L; Geisler, Stefanie M; Pelizzari, Simone; Polstra, Abeltje M; van Hagen, Johanna M; Denecke, Jonas; Campiglio, Marta; Liedl, Klaus R; Stevens, Cathy A; Person, Richard E; Rentas, Stefan; Marsh, Eric D; Conlin, Laura K; Tuluc, Petronel; Kutsche, Kerstin; Flucher, Bernhard E.

Brain ; 144(7): 2092-2106, 2021 08 17.

Article in English | MEDLINE | ID: mdl-33704440

6.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin.

Am J Med Genet A ; 185(6): 1649-1665, 2021 06.

Article in English | MEDLINE | ID: mdl-33783954

7.

Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Lindsay, Faith; Anderson, Ilse; Wentzensen, Ingrid M; Suhrbier, David; Stevens, Cathy A.

Am J Med Genet A ; 182(4): 623-627, 2020 04.

Article in English | MEDLINE | ID: mdl-32003537

8.

Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).

Ward, Scott K; Stevens, Cathy A; Keates-Baleeiro, Jennifer; Bhakta, Manoo.

J Pediatr Hematol Oncol ; 42(4): e228-e230, 2020 05.

Article in English | MEDLINE | ID: mdl-30951021

9.

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

10.

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.

Smith, Erica D; Blanco, Kirsten; Sajan, Samin A; Hunter, Jesse M; Shinde, Deepali N; Wayburn, Bess; Rossi, Mari; Huang, Jennifer; Stevens, Cathy A; Muss, Candace; Alcaraz, Wendy; Hagman, Kelly D Farwell; Tang, Sha; Radtke, Kelly.

Genet Med ; 21(10): 2199-2207, 2019 10.

Article in English | MEDLINE | ID: mdl-30894705

11.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Carter, Lauren B; Battaglia, Agatino; Cherry, Athena; Manning, Melanie A; Ruzhnikov, Maura Rz; Bird, Lynne M; Dowsett, Leah; Graham, John M; Alkuraya, Fowzan S; Hashem, Mais; Dinulos, Mary Beth; Vallee, Stephanie; Adam, Margaret P; Glass, Ian; Beck, Anita E; Stevens, Cathy A; Zackai, Elaine; McDougall, Carey; Keena, Beth; Peron, Angela; Vignoli, Aglaia; Seaver, Laurie H; Slavin, Thomas P; Hudgins, Louanne.

Am J Med Genet A ; 179(8): 1543-1546, 2019 08.

Article in English | MEDLINE | ID: mdl-31207089

12.

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

13.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T; Wolfe, Lynne A; Tifft, Cynthia J; Zerfas, Patricia M; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G; Lee, Chyi-Chia R; Ferraz, Victor; da Silva, Eduarda Morgana; Stevens, Cathy A; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J; Chung, Hon-Yin Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk, Witold K; Mazzanti, Laura; Brunner, Han G; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V; Boerkoel, Cornelius F; Gahl, William A; de Vries, Bert B A; van Haelst, Mieke M; Zenker, Martin; Markello, Thomas C.

Am J Hum Genet ; 97(1): 99-110, 2015 Jul 02.

Article in English | MEDLINE | ID: mdl-26119818

14.

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.

Stevens, Cathy A; Krantz, Ian.

Am J Med Genet A ; : 1463-1536, 2018 Apr 25.

Article in English | MEDLINE | ID: mdl-29696775

15.

Congenital lumbar hernia-A feature of diabetic embryopathy?

Stevens, Cathy A; Hogue, Jacob S; Hopkin, Robert J; Lombardo, Rachel C; Schrier Vergano, Samantha A.

Am J Med Genet A ; 176(11): 2243-2249, 2018 11.

Article in English | MEDLINE | ID: mdl-30276953

16.

Intestinal malrotation in Rubinstein-Taybi syndrome.

Stevens, Cathy A.

Am J Med Genet A ; 167A(10): 2399-401, 2015 Oct.

Article in English | MEDLINE | ID: mdl-26097216

17.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope, Alan F; Wang, Kai; Evjenth, Rune; Xing, Jinchuan; Johnston, Jennifer J; Swensen, Jeffrey J; Johnson, W Evan; Moore, Barry; Huff, Chad D; Bird, Lynne M; Carey, John C; Opitz, John M; Stevens, Cathy A; Jiang, Tao; Schank, Christa; Fain, Heidi Deborah; Robison, Reid; Dalley, Brian; Chin, Steven; South, Sarah T; Pysher, Theodore J; Jorde, Lynn B; Hakonarson, Hakon; Lillehaug, Johan R; Biesecker, Leslie G; Yandell, Mark; Arnesen, Thomas; Lyon, Gholson J.

Am J Hum Genet ; 89(1): 28-43, 2011 Jul 15.

Article in English | MEDLINE | ID: mdl-21700266

18.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

Daoud, Hussein; Tétreault, Martine; Gibson, William; Guerrero, Kether; Cohen, Ana; Gburek-Augustat, Janina; Synofzik, Matthis; Brais, Bernard; Stevens, Cathy A; Sanchez-Carpintero, Rocio; Goizet, Cyril; Naidu, Sakkubai; Vanderver, Adeline; Bernard, Geneviève.

J Med Genet ; 50(3): 194-7, 2013 Mar.

Article in English | MEDLINE | ID: mdl-23355746

19.

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Schanze, Denny; Harakalova, Magdalena; Stevens, Cathy A; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz, Victor E F; McDonald-McGinn, Donna M; Zackai, Elaine H; Wright, Michael; van Lieshout, Stef; Vogel, Maartje J; van Haelst, Mieke M; Zenker, Martin.

Am J Med Genet A ; 161A(12): 3012-7, 2013 Dec.

Article in English | MEDLINE | ID: mdl-24115501

20.

Investigation of NRXN1 deletions: clinical and molecular characterization.

Dabell, Mindy Preston; Rosenfeld, Jill A; Bader, Patricia; Escobar, Luis F; El-Khechen, Dima; Vallee, Stephanie E; Dinulos, Mary Beth Palko; Curry, Cynthia; Fisher, Jamie; Tervo, Raymond; Hannibal, Mark C; Siefkas, Kiana; Wyatt, Philip R; Hughes, Lauren; Smith, Rosemarie; Ellingwood, Sara; Lacassie, Yves; Stroud, Tracy; Farrell, Sandra A; Sanchez-Lara, Pedro A; Randolph, Linda M; Niyazov, Dmitriy; Stevens, Cathy A; Schoonveld, Cheri; Skidmore, David; MacKay, Sara; Miles, Judith H; Moodley, Manikum; Huillet, Adam; Neill, Nicholas J; Ellison, Jay W; Ballif, Blake C; Shaffer, Lisa G.

Am J Med Genet A ; 161A(4): 717-31, 2013 Apr.

Article in English | MEDLINE | ID: mdl-23495017

Virtual Health Library

United States - Mexico Border

Your selection (0)

Export format:

Export: