OpenURL Connection Search

Select item for more details and to access through your institution.

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in <italic>LAMA5</italic>.
Published in:
Annals of the New York Academy of Sciences, 2018, v. 1413, n. 1, p. 119, doi. 10.1111/nyas.13585
By:
- Maselli, Ricardo A.;
- Arredondo, Juan;
- Vázquez, Jessica;
- Chong, Jessica X.;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Lara, Marian;
- Ng, Fiona;
- Lo, Victoria Lee;
- Pytel, Peter;
- McDonald, Craig M.
Publication type:
Article
Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
By:
- Sok, Pagna;
- Sabo, Aniko;
- Almli, Lynn M.;
- Jenkins, Mary M.;
- Nembhard, Wendy N.;
- Agopian, A. J.;
- Bamshad, Michael J.;
- Blue, Elizabeth E.;
- Brody, Lawrence C.;
- Brown, Austin L.;
- Browne, Marilyn L.;
- Canfield, Mark A.;
- Carmichael, Suzan L.;
- Chong, Jessica X.;
- Dugan‐Perez, Shannon;
- Feldkamp, Marcia L.;
- Finnell, Richard H.;
- Gibbs, Richard A.;
- Kay, Denise M.;
- Lei, Yunping
Publication type:
Article
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2376, doi. 10.1002/ajmg.a.62874
By:
- Li, Jingjing;
- Yang, Wei;
- Wang, Yuejun Jessie;
- Ma, Chen;
- Curry, Cynthia J.;
- McGoldrick, Daniel;
- Nickerson, Deborah A.;
- Chong, Jessica X.;
- Blue, Elizabeth E.;
- Mullikin, James C.;
- Reefhuis, Jennita;
- Nembhard, Wendy N.;
- Romitti, Paul A.;
- Werler, Martha M.;
- Browne, Marilyn L.;
- Olshan, Andrew F.;
- Finnell, Richard H.;
- Feldkamp, Marcia L.;
- Pangilinan, Faith;
- Almli, Lynn M.
Publication type:
Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3098, doi. 10.1002/ajmg.a.38406
By:
- Said, Edith;
- Chong, Jessica X.;
- Hempel, Maja;
- Denecke, Jonas;
- Soler, Paul;
- Strom, Tim;
- Nickerson, Deborah A.;
- Kubisch, Christian;
- Bamshad, Michael J.;
- Lessel, Davor
Publication type:
Article
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2240, doi. 10.1002/ajmg.a.38291
By:
- Maselli, Ricardo A.;
- Arredondo, Juan;
- Vázquez, Jessica;
- Chong, Jessica X.;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Lara, Marian;
- Ng, Fiona;
- Lo, Victoria L.;
- Pytel, Peter;
- McDonald, Craig M.
Publication type:
Article
Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 935, doi. 10.1002/ajmg.a.35942
By:
- Jamal, Seema M.;
- Yu, Joon‐Ho;
- Chong, Jessica X.;
- Dent, Karin M.;
- Conta, Jessie H.;
- Tabor, Holly K.;
- Bamshad, Michael J.
Publication type:
Article
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1229, doi. 10.1002/ajmg.a.35302
By:
- Loucks, Catrina;
- Parboosingh, Jillian S.;
- Chong, Jessica X.;
- Ober, Carole;
- Siu, Victoria M.;
- Hegele, Robert A.;
- Rupar, C. Anthony;
- McLeod, D. Ross;
- Pinto, Alfredo;
- Chudley, Albert E.;
- Innes, A. Micheil
Publication type:
Article
Estimating the human mutation rate using autozygosity in a founder population.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1277, doi. 10.1038/ng.2418
By:
- Campbell, Catarina D;
- Chong, Jessica X;
- Malig, Maika;
- Ko, Arthur;
- Dumont, Beth L;
- Han, Lide;
- Vives, Laura;
- O'Roak, Brian J;
- Sudmant, Peter H;
- Shendure, Jay;
- Abney, Mark;
- Ober, Carole;
- Eichler, Evan E
Publication type:
Article
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Published in:
Scientific Reports, 2017, p. 41803, doi. 10.1038/srep41803
By:
- Zieba, Jennifer;
- Zhang, Wenjuan;
- Chong, Jessica X.;
- Forlenza, Kimberly N.;
- Martin, Jorge H.;
- Heard, Kelly;
- Grange, Dorothy K.;
- Butler, Merlin G.;
- Kleefstra, Tjitske;
- Lachman, Ralph S.;
- Nickerson, Deborah;
- Regnier, Michael;
- Cohn, Daniel H.;
- Bamshad, Michael;
- Krakow, Deborah
Publication type:
Article
Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma.
Published in:
PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104396
By:
- Campbell, Catarina D.;
- Mohajeri, Kiana;
- Malig, Maika;
- Hormozdiari, Fereydoun;
- Nelson, Benjamin;
- Du, Gaixin;
- Patterson, Kristen M.;
- Eng, Celeste;
- Torgerson, Dara G.;
- Hu, Donglei;
- Herman, Catherine;
- Chong, Jessica X.;
- Ko, Arthur;
- O'Roak, Brian J.;
- Krumm, Niklas;
- Vives, Laura;
- Lee, Choli;
- Roth, Lindsey A.;
- Rodriguez-Cintron, William;
- Rodriguez-Santana, Jose
Publication type:
Article
GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM.
Published in:
BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05693-x
By:
- Rahit, K. M. Tahsin Hassan;
- Avramovic, Vladimir;
- Chong, Jessica X.;
- Tarailo-Graovac, Maja
Publication type:
Article
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Published in:
Thyroid, 2017, v. 27, n. 1, p. 129, doi. 10.1089/thy.2016.0469
By:
- Srichomkwun, Panudda;
- Takamatsu, Junta;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Chong, Jessica X.;
- Refetoff, Samuel
Publication type:
Article
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1045, doi. 10.1038/ejhg.2011.85
By:
- Chong, Jessica X.;
- Oktay, A. Afşin;
- Zunyan Dai;
- Swoboda, Kathryn J.;
- Prior, Thomas W.;
- Ober, Carole
Publication type:
Article
Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
Published in:
2019
By:
- Mackelprang, Romel D.;
- Bamshad, Michael J.;
- Chong, Jessica X.;
- Hou, Xuanlin;
- Buckingham, Kati J.;
- Shively, Kathryn;
- deBruyn, Guy;
- Mugo, Nelly R.;
- Mullins, James I.;
- McElrath, M. Juliana;
- Baeten, Jared M.;
- Celum, Connie;
- Emond, Mary J.;
- Lingappa, Jairam R.
Publication type:
Correction Notice
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Published in:
Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2384
By:
- Blue, Elizabeth E.;
- Moore, Kristin J.;
- North, Kari E.;
- Desrosiers, Tania A.;
- Carmichael, Suzan L.;
- White, Janson J.;
- Chong, Jessica X.;
- Bamshad, Michael J.;
- Jenkins, Mary M.;
- Almli, Lynn M.;
- Brody, Lawrence C.;
- Freedman, Sharon F.;
- Reefhuis, Jennita;
- Romitti, Paul A.;
- Shaw, Gary M.;
- Werler, Martha;
- Kay, Denise M.;
- Browne, Marilyn L.;
- Feldkamp, Marcia L.;
- Finnell, Richard H.
Publication type:
Article
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
Published in:
Birth Defects Research, 2019, v. 111, n. 20, p. 1618, doi. 10.1002/bdr2.1554
By:
- Jenkins, Mary M.;
- Almli, Lynn M.;
- Pangilinan, Faith;
- Chong, Jessica X.;
- Blue, Elizabeth E.;
- Shapira, Stuart K.;
- White, Janson;
- McGoldrick, Daniel;
- Smith, Joshua D.;
- Mullikin, James C.;
- Bean, Christopher J.;
- Nembhard, Wendy N.;
- Lou, Xiang‐Yang;
- Shaw, Gary M.;
- Romitti, Paul A.;
- Keppler‐Noreuil, Kim;
- Yazdy, Mahsa M.;
- Kay, Denise M.;
- Carter, Tonia C.;
- Olshan, Andrew F.
Publication type:
Article
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.
Published in:
Clinical Genetics, 2024, v. 106, n. 5, p. 574, doi. 10.1111/cge.14587
By:
- Furia, Francesca;
- Levy, Amanda M.;
- Theunis, Miel;
- Bamshad, Michael J.;
- Bartos, Meghan N.;
- Bijlsma, Emilia K.;
- Brancati, Francesco;
- Cejudo, Lucile;
- Chong, Jessica X.;
- De Luca, Chiara;
- Dean, Sarah Joy;
- Egense, Alena;
- Goel, Himanshu;
- Guenzel, Adam J.;
- Hüffmeier, Ulrike;
- Legius, Eric;
- Mancini, Grazia M. S.;
- Marcos‐Alcalde, Iñigo;
- Niclass, Tanguy;
- Planes, Marc
Publication type:
Article
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.
Published in:
2024
By:
- Muntadas, Javier A;
- Hyland, Martin R;
- Martínez, Maria Del Rosario Ortolá;
- Young, Jaime N;
- Chong, Jessica X;
- Bamshad, Michael J;
- Maselli, Ricardo A.
Publication type:
Case Study
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.
Published in:
PLoS Pathogens, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.ppat.1006703
By:
- Mackelprang, Romel D.;
- Bamshad, Michael J.;
- Chong, Jessica X.;
- Hou, Xuanlin;
- Buckingham, Kati J.;
- Shively, Kathryn;
- deBruyn, Guy;
- Mugo, Nelly R.;
- Mullins, James I.;
- McElrath, M. Juliana;
- Baeten, Jared M.;
- Celum, Connie;
- Emond, Mary J.;
- Lingappa, Jairam R.;
- null, null
Publication type:
Article
Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
Published in:
2015
By:
- Emond, Mary J.;
- Louie, Tin;
- Emerson, Julia;
- Chong, Jessica X.;
- Mathias, Rasika A.;
- Knowles, Michael R.;
- Rieder, Mark J.;
- Tabor, Holly K.;
- Nickerson, Debbie A.;
- Barnes, Kathleen C.;
- null, null;
- GO, Lung;
- Gibson, Ronald L.;
- Bamshad, Michael J.
Publication type:
Correction Notice
Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.
Published in:
PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005273
By:
- Emond, Mary J.;
- Louie, Tin;
- Emerson, Julia;
- Chong, Jessica X.;
- Mathias, Rasika A.;
- Knowles, Michael R.;
- Rieder, Mark J.;
- Tabor, Holly K.;
- Nickerson, Debbie A.;
- Barnes, Kathleen C.;
- null, null;
- GO, Lung;
- Gibson, Ronald L.;
- Bamshad, Michael J.
Publication type:
Article
Variant‐level matching for diagnosis and discovery: Challenges and opportunities.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 782, doi. 10.1002/humu.24359
By:
- Rodrigues, Eliete da S.;
- Griffith, Sean;
- Martin, Renan;
- Antonescu, Corina;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Doheny, Kimberly F.;
- Lupski, James R.;
- Valle, David;
- Bamshad, Michael J.;
- Hamosh, Ada;
- Sheffer, Assaf;
- Chong, Jessica X.;
- Einhorn, Yaron;
- Cupak, Miro;
- Sobreira, Nara
Publication type:
Article
Front Cover, Volume 40, Issue 10.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. i, doi. 10.1002/humu.23923
By:
- Cox, Timothy C.;
- Lidral, Andrew C.;
- McCoy, Jason C.;
- Liu, Huan;
- Cox, Liza L.;
- Zhu, Ying;
- Anderson, Ryan D.;
- Moreno Uribe, Lina M.;
- Anand, Deepti;
- Deng, Mei;
- Richter, Chika T.;
- Nidey, Nichole L.;
- Standley, Jennifer M.;
- Blue, Elizabeth E.;
- Chong, Jessica X.;
- Smith, Joshua D.;
- Kirk, Edwin P.;
- Venselaar, Hanka;
- Krahn, Katy N.;
- Bokhoven, Hans
Publication type:
Article
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1813, doi. 10.1002/humu.23793
By:
- Cox, Timothy C.;
- Lidral, Andrew C.;
- McCoy, Jason C.;
- Liu, Huan;
- Cox, Liza L.;
- Zhu, Ying;
- Anderson, Ryan D.;
- Moreno Uribe, Lina M.;
- Anand, Deepti;
- Deng, Mei;
- Richter, Chika T.;
- Nidey, Nichole L.;
- Standley, Jennifer M.;
- Blue, Elizabeth E.;
- Chong, Jessica X.;
- Smith, Joshua D.;
- Kirk, Edwin P.;
- Venselaar, Hanka;
- Krahn, Katy N.;
- Bokhoven, Hans
Publication type:
Article
<italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.
Published in:
Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367
By:
- Mori, Takayasu;
- Yousefzadeh, Matthew J.;
- Faridounnia, Maryam;
- Chong, Jessica X.;
- Hisama, Fuki M.;
- Hudgins, Louanne;
- Mercado, Gabriela;
- Wade, Erin A.;
- Barghouthy, Amira S.;
- Lee, Lin;
- Martin, George M.;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- University of Washington Center for Mendelian Genomics;
- Niedernhofer, Laura J.;
- Oshima, Junko
Publication type:
Article
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.
Published in:
2018
By:
- Blue, Elizabeth;
- Louie, Tin L.;
- Chong, Jessica X.;
- Hebbring, Scott J.;
- Barnes, Kathleen C.;
- Rafaels, Nicholas M.;
- Knowles, Michael R.;
- Gibson, Ronald L.;
- Bamshad, Michael J.;
- Emond, Mary J.;
- NHLBI GO Exome Sequencing Project, Lung GO;
- U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO)
Publication type:
journal article
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 7, p. 1285
By:
- Çalışkan, Minal;
- Chong, Jessica X.;
- Uricchio, Lawrence;
- Anderson, Rebecca;
- Chen, Peixian;
- Sougnez, Carrie;
- Garimella, Kiran;
- Gabriel, Stacey B.;
- DePristo, Mark A.;
- Shakir, Khalid;
- Matern, Dietrich;
- Das, Soma;
- Waggoner, Darrel;
- Nicolae, Dan L.;
- Ober, Carole
Publication type:
Article
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Published in:
Genetic Epidemiology, 2019, v. 43, n. 2, p. 215, doi. 10.1002/gepi.22176
By:
- Helle, Emmi;
- Córdova‐Palomera, Aldo;
- Ojala, Tiina;
- Saha, Priyanka;
- Potiny, Praneetha;
- Gustafsson, Stefan;
- Ingelsson, Erik;
- Bamshad, Michael;
- Nickerson, Deborah;
- Chong, Jessica X.;
- Ashley, Euan;
- Priest, James R.
Publication type:
Article
Accurate Imputation of Rare and Common Variants in a Founder Population From a Small Number of Sequenced Individuals.
Published in:
Genetic Epidemiology, 2012, v. 36, n. 4, p. 312, doi. 10.1002/gepi.21623
By:
- Uricchio, Lawrence H.;
- Chong, Jessica X.;
- Ross, Kevin D.;
- Ober, Carole;
- Nicolae, Dan L.
Publication type:
Article

Found: 29