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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
By:
- O'Grady, Lauren;
- Schrier Vergano, Samantha A.;
- Hoffman, Trevor L.;
- Sarco, Dean;
- Cherny, Sara;
- Bryant, Emily;
- Schultz‐Rogers, Laura;
- Chung, Wendy K.;
- Sacharow, Stephanie;
- Immken, Ladonna L.;
- Holder, Susan;
- Blackwell, Rebecca R.;
- Buchanan, Catherine;
- Yusupov, Roman;
- Lecoquierre, François;
- Guerrot, Anne‐Marie;
- Rodan, Lance;
- de Vries, Bert B. A.;
- Kamsteeg, Erik Jan;
- Santos Simarro, Fernando
Publication type:
Article
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2415, doi. 10.1002/ajmg.a.38349
By:
- Balasubramanian, Karthika;
- Li, Bing;
- Krakow, Deborah;
- Nevarez, Lisette;
- Ho, Patric J.;
- Ainsworth, Julia A.;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Immken, LaDonna;
- Lachman, Ralph S.;
- Cohn, Daniel H.
Publication type:
Article
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1791, doi. 10.1002/ajmg.a.37670
By:
- Millan, Francisca;
- Cho, Megan T.;
- Retterer, Kyle;
- Monaghan, Kristin G.;
- Bai, Renkui;
- Vitazka, Patrik;
- Everman, David B.;
- Smith, Brooke;
- Angle, Brad;
- Roberts, Victoria;
- Immken, LaDonna;
- Nagakura, Honey;
- DiFazio, Marc;
- Sherr, Elliott;
- Haverfield, Eden;
- Friedman, Bethany;
- Telegrafi, Aida;
- Juusola, Jane;
- Chung, Wendy K.;
- Bale, Sherri
Publication type:
Article
Clinical Comparison of Overlapping Deletions of 19p13.3.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1110, doi. 10.1002/ajmg.a.35923
By:
- Risheg, Hiba;
- Pasion, Romela;
- Sacharow, Stephanie;
- Proud, Virginia;
- Immken, LaDonna;
- Schwartz, Stuart;
- Tepperberg, Jim H.;
- Papenhausen, Peter;
- Tan, Tiong Y.;
- Andrieux, Joris;
- Plessis, Ghislaine;
- Amor, David J.;
- Keitges, Elisabeth A.
Publication type:
Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Published in:
Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481
By:
- Shinawi, Marwan;
- Schaaf, Christian P.;
- Bhatt, Samarth S.;
- Zhilian Xia;
- Patel, Ankita;
- Sau Wai Cheung;
- Lanpher, Brendan;
- Nagl, Sandra;
- Herding, Heinrich Stephan;
- Nevinny-Stickel, Claudia;
- Immken, LaDonna L.;
- Patel, Gayle Simpson;
- German, Jennifer Ruth;
- Beaudet, Arthur L.;
- Stankiewicz, Pawel
Publication type:
Article
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Published in:
Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x
By:
- El-Hattab, Ayman W.;
- Smolarek, Teresa A.;
- Walker, Martha E.;
- Schorry, Elizabeth K.;
- Immken, LaDonna L.;
- Patel, Gayle;
- Abbott, Mary-Alice;
- Lanpher, Brendan C.;
- Zhishuo Ou;
- Kang, Sung-Hae L.;
- Patel, Ankita;
- Scaglia, Fernando;
- Lupski, James R.;
- Sau Wai Cheung;
- Stankiewicz, Pawel
Publication type:
Article
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
By:
- Peddibhotla, Sirisha;
- Nagamani, Sandesh CS;
- Erez, Ayelet;
- Hunter, Jill V;
- Holder Jr, J Lloyd;
- Carlin, Mary E;
- Bader, Patricia I;
- Perras, Helene MF;
- Allanson, Judith E;
- Newman, Leslie;
- Simpson, Gayle;
- Immken, LaDonna;
- Powell, Erin;
- Mohanty, Aaron;
- Kang, Sung-Hae L;
- Stankiewicz, Pawel;
- Bacino, Carlos A;
- Bi, Weimin;
- Patel, Ankita;
- Cheung, Sau W
Publication type:
Article
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42
By:
- Witsch, Jens;
- Szafranski, Przemyslaw;
- Chen, Chun-An;
- Immken, LaDonna;
- Simpson Patel, Gayle;
- Hixson, Patricia;
- Cheung, Sau Wai;
- Stankiewicz, Pawel;
- Schaaf, Christian P
Publication type:
Article
Coexistence of myelodysplastic syndrome and untreated chronic lymphocytic leukemia with development of acute myeloid leukemia immediately after treatment of chronic lymphocytic leukemia.
Published in:
American Journal of Hematology, 1989, v. 30, n. 3, p. 174, doi. 10.1002/ajh.2830300310
By:
- Bracey, Arthur W.;
- Maddox, Anne-Marie;
- Immken, Ladonna;
- Hsu, Su Ming;
- Marks, Michael E.
Publication type:
Article
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Published in:
Clinical Case Reports, 2018, v. 6, n. 7, p. 1208, doi. 10.1002/ccr3.1575
By:
- Sajan, Samin A.;
- Powis, Zöe;
- Helbig, Katherine L.;
- Nagakura, Honey;
- Immken, Ladonna;
- Tang, Sha;
- Alcaraz, Wendy A.
Publication type:
Article
SITE OF ACTION OF 3',5'-CYCLIC ADENOSINE MONOPHOSPHATE IN PRODUCTION OF TRYPTOPHANASE IN ESCHERICHIA COLI.
Published in:
Genetics, 1972, v. 70, n. 1, p. 175
By:
- IMMKEN, LADONNA;
- APIRION, DAVID
Publication type:
Article
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.
Published in:
Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
By:
- Berryer, Martin H.;
- Hamdan, Fadi F.;
- Klitten, Laura L.;
- Møller, Rikke S.;
- Carmant, Lionel;
- Schwartzentruber, Jeremy;
- Patry, Lysanne;
- Dobrzeniecka, Sylvia;
- Rochefort, Daniel;
- Neugnot‐Cerioli, Mathilde;
- Lacaille, Jean‐Claude;
- Niu, Zhiyv;
- Eng, Christine M.;
- Yang, Yaping;
- Palardy, Sylvain;
- Belhumeur, Céline;
- Rouleau, Guy A.;
- Tommerup, Niels;
- Immken, LaDonna;
- Beauchamp, Miriam H.
Publication type:
Article
Detection of clinically relevant exonic copy-number changes by array CGH.
Published in:
Human Mutation, 2010, v. 31, n. 12, p. 1326, doi. 10.1002/humu.21360
By:
- Boone, Philip M.;
- Bacino, Carlos A.;
- Shaw, Chad A.;
- Eng, Patricia A.;
- Hixson, Patricia M.;
- Pursley, Amber N.;
- Kang, Sung-Hae L.;
- Yang, Yaping;
- Wiszniewska, Joanna;
- Nowakowska, Beata A.;
- del Gaudio, Daniela;
- Xia, Zhilian;
- Simpson-Patel, Gayle;
- Immken, LaDonna L.;
- Gibson, James B.;
- Tsai, Anne C.-H.;
- Bowers, Jennifer A.;
- Reimschisel, Tyler E.;
- Schaaf, Christian P.;
- Potocki, Lorraine
Publication type:
Article

Found: 13