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1.

1000 Genomes Project phase 4: The gift that keeps on giving.

Hanchard, Neil A; Choudhury, Ananyo.

Cell ; 185(18): 3286-3289, 2022 09 01.

Article in English | MEDLINE | ID: mdl-36055197

2.

"Iron"ing out hemophagocytosis through PIEZO1.

Hanchard, Neil A; Wonkam, Ambroise.

Cell ; 184(4): 856-858, 2021 02 18.

Article in English | MEDLINE | ID: mdl-33606984

3.

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.

Rios, Jonathan J; Li, Yang; Paria, Nandina; Bohlender, Ryan J; Huff, Chad; Rosenfeld, Jill A; Liu, Pengfei; Bi, Weimin; Haga, Kentaro; Fukuda, Mitsunori; Vashisth, Shayal; Kaur, Kiran; Chahrour, Maria H; Bober, Michael B; Duker, Angela L; Ladha, Farah A; Hanchard, Neil A; Atala, Kristhen; Khanshour, Anas M; Smith, Linsley; Wise, Carol A; Delgado, Mauricio R.

Am J Hum Genet ; 110(12): 2103-2111, 2023 Dec 07.

Article in English | MEDLINE | ID: mdl-37924809

4.

High-depth African genomes inform human migration and health.

Choudhury, Ananyo; Aron, Shaun; Botigué, Laura R; Sengupta, Dhriti; Botha, Gerrit; Bensellak, Taoufik; Wells, Gordon; Kumuthini, Judit; Shriner, Daniel; Fakim, Yasmina J; Ghoorah, Anisah W; Dareng, Eileen; Odia, Trust; Falola, Oluwadamilare; Adebiyi, Ezekiel; Hazelhurst, Scott; Mazandu, Gaston; Nyangiri, Oscar A; Mbiyavanga, Mamana; Benkahla, Alia; Kassim, Samar K; Mulder, Nicola; Adebamowo, Sally N; Chimusa, Emile R; Muzny, Donna; Metcalf, Ginger; Gibbs, Richard A; Rotimi, Charles; Ramsay, Michèle; Adeyemo, Adebowale A; Lombard, Zané; Hanchard, Neil A.

Nature ; 586(7831): 741-748, 2020 10.

Article in English | MEDLINE | ID: mdl-33116287

5.

Five Priorities of African Genomics Research: The Next Frontier.

Wonkam, Ambroise; Munung, Nchangwi S; Dandara, Collet; Esoh, Kevin K; Hanchard, Neil A; Landoure, Guida.

Annu Rev Genomics Hum Genet ; 23: 499-521, 2022 08 31.

Article in English | MEDLINE | ID: mdl-35576571

6.

Addressing underrepresentation in genomics research through community engagement.

Lemke, Amy A; Esplin, Edward D; Goldenberg, Aaron J; Gonzaga-Jauregui, Claudia; Hanchard, Neil A; Harris-Wai, Julie; Ideozu, Justin E; Isasi, Rosario; Landstrom, Andrew P; Prince, Anya E R; Turbitt, Erin; Sabatello, Maya; Schrier Vergano, Samantha A; Taylor, Matthew R G; Yu, Joon-Ho; Brothers, Kyle B; Garrison, Nanibaa' A.

Am J Hum Genet ; 109(9): 1563-1571, 2022 09 01.

Article in English | MEDLINE | ID: mdl-36055208

7.

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Huang, Huiyan; Pan, Jiehong; Spielberg, David R; Hanchard, Neil A; Scott, Daryl A; Burrage, Lindsay C; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A; Dawson, Zachary D; Hu, Alex Z; Tycksen, Eric; Silverman, Gary A; Baldridge, Dustin; Wambach, Jennifer A; Pak, Stephen C; Brody, Steven L; Schedl, Tim.

Proc Natl Acad Sci U S A ; 119(6)2022 02 08.

Article in English | MEDLINE | ID: mdl-35121658

8.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Marom, Ronit; Burrage, Lindsay C; Venditti, Rossella; Clément, Aurélie; Blanco-Sánchez, Bernardo; Jain, Mahim; Scott, Daryl A; Rosenfeld, Jill A; Sutton, V Reid; Shinawi, Marwan; Mirzaa, Ghayda; DeVile, Catherine; Roberts, Rowenna; Calder, Alistair D; Allgrove, Jeremy; Grafe, Ingo; Lanza, Denise G; Li, Xiaohui; Joeng, Kyu Sang; Lee, Yi-Chien; Song, I-Wen; Sliepka, Joseph M; Batkovskyte, Dominyka; Washington, Megan; Dawson, Brian C; Jin, Zixue; Jiang, Ming-Ming; Chen, Shan; Chen, Yuqing; Tran, Alyssa A; Emrick, Lisa T; Murdock, David R; Hanchard, Neil A; Zapata, Gladys E; Mehta, Nitesh R; Weis, Mary Ann; Scott, Abbey A; Tremp, Brenna A; Phillips, Jennifer B; Wegner, Jeremy; Taylor-Miller, Tashunka; Gibbs, Richard A; Muzny, Donna M; Jhangiani, Shalini N; Hicks, John; Stottmann, Rolf W; Dickinson, Mary E; Seavitt, John R; Heaney, Jason D; Eyre, David R.

Am J Hum Genet ; 108(9): 1710-1724, 2021 09 02.

Article in English | MEDLINE | ID: mdl-34450031

9.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

Chen, Chun-An; Lattier, John; Zhu, Wenmiao; Rosenfeld, Jill; Wang, Lei; Scott, Tiana M; Du, Haowei; Patel, Vipulkumar; Dang, Anh; Magoulas, Pilar; Streff, Haley; Sebastian, Jessica; Svihovec, Shayna; Curry, Kathryn; Delgado, Mauricio R; Hanchard, Neil A; Lalani, Seema; Marom, Ronit; Madan-Khetarpal, Suneeta; Saenz, Margarita; Dai, Hongzheng; Meng, Linyan; Xia, Fan; Bi, Weimin; Liu, Pengfei; Posey, Jennifer E; Scott, Daryl A; Lupski, James R; Eng, Christine M; Xiao, Rui; Yuan, Bo.

Genet Med ; 24(2): 364-373, 2022 02.

Article in English | MEDLINE | ID: mdl-34906496

10.

Author Correction: High-depth African genomes inform human migration and health.

Choudhury, Ananyo; Aron, Shaun; Botigué, Laura R; Sengupta, Dhriti; Botha, Gerrit; Bensellak, Taoufik; Wells, Gordon; Kumuthini, Judit; Shriner, Daniel; Fakim, Yasmina J; Ghoorah, Anisah W; Dareng, Eileen; Odia, Trust; Falola, Oluwadamilare; Adebiyi, Ezekiel; Hazelhurst, Scott; Mazandu, Gaston; Nyangiri, Oscar A; Mbiyavanga, Mamana; Benkahla, Alia; Kassim, Samar K; Mulder, Nicola; Adebamowo, Sally N; Chimusa, Emile R; Muzny, Donna; Metcalf, Ginger; Gibbs, Richard A; Rotimi, Charles; Ramsay, Michèle; Adeyemo, Adebowale A; Lombard, Zané; Hanchard, Neil A.

Nature ; 592(7856): E26, 2021 Apr.

Article in English | MEDLINE | ID: mdl-33846614

11.

Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.

Retshabile, Gaone; Mlotshwa, Busisiwe C; Williams, Lesedi; Mwesigwa, Savannah; Mboowa, Gerald; Huang, Zhuoyi; Rustagi, Navin; Swaminathan, Shanker; Katagirya, Eric; Kyobe, Samuel; Wayengera, Misaki; Kisitu, Grace P; Kateete, David P; Wampande, Eddie M; Maplanka, Koketso; Kasvosve, Ishmael; Pettitt, Edward D; Matshaba, Mogomotsi; Nsangi, Betty; Marape, Marape; Tsimako-Johnstone, Masego; Brown, Chester W; Yu, Fuli; Kekitiinwa, Adeodata; Joloba, Moses; Mpoloka, Sununguko W; Mardon, Graeme; Anabwani, Gabriel; Hanchard, Neil A.

Am J Hum Genet ; 102(5): 731-743, 2018 05 03.

Article in English | MEDLINE | ID: mdl-29706352

12.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska, Magdalena; Chen, Yunjia; Callens, Tom; Gomes, Alicia; Sharp, Angela; Johnson, Sherrell; Hsiao, Meng-Chang; Chen, Zhenbin; Balasubramanian, Meena; Barnett, Christopher P; Becker, Troy A; Ben-Shachar, Shay; Bertola, Debora R; Blakeley, Jaishri O; Burkitt-Wright, Emma M M; Callaway, Alison; Crenshaw, Melissa; Cunha, Karin S; Cunningham, Mitch; D'Agostino, Maria D; Dahan, Karin; De Luca, Alessandro; Destrée, Anne; Dhamija, Radhika; Eoli, Marica; Evans, D Gareth R; Galvin-Parton, Patricia; George-Abraham, Jaya K; Gripp, Karen W; Guevara-Campos, Jose; Hanchard, Neil A; Hernández-Chico, Concepcion; Immken, LaDonna; Janssens, Sandra; Jones, Kristi J; Keena, Beth A; Kochhar, Aaina; Liebelt, Jan; Martir-Negron, Arelis; Mahoney, Maurice J; Maystadt, Isabelle; McDougall, Carey; McEntagart, Meriel; Mendelsohn, Nancy; Miller, David T; Mortier, Geert; Morton, Jenny; Pappas, John; Plotkin, Scott R; Pond, Dinel.

Am J Hum Genet ; 102(1): 69-87, 2018 01 04.

Article in English | MEDLINE | ID: mdl-29290338

13.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Ernst, Michelle E; Baugh, Evan H; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S; Kushary, Sulagna; Akman, Cigdem I; Heinzen, Erin L; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A; Burrage, Lindsay C; Leduc, Magalie S; Chong, Josephine S C; Bend, Renee; Lyons, Michael J; Lee, Jennifer A; Suwannarat, Pim; Brilstra, Eva; Simon, Marleen; Koopmans, Marije; van Binsbergen, Ellen; Groepper, Daniel; Fleischer, Julie; Nava, Caroline; Keren, Boris; Mignot, Cyril; Mathieu, Sophie; Mancini, Grazia M S; Madan-Khetarpal, Suneeta; Infante, Elena M; Bluvstein, Judith; Seeley, Andrea; Bachman, Kristine; Klee, Eric W; Schultz-Rogers, Laura E; Hasadsri, Linda; Barnett, Sarah; Ellingson, Marissa S; Ferber, Matthew J; Narayanan, Vinodh; Ramsey, Keri; Rauch, Anita; Joset, Pascal; Steindl, Katharina; Sheehan, Theodore; Poduri, Annapurna; Vasquez, Alejandra.

Epilepsia ; 62(7): e103-e109, 2021 07.

Article in English | MEDLINE | ID: mdl-34041744

14.

Biases in arginine codon usage correlate with genetic disease risk.

Schulze, Katharina V; Hanchard, Neil A; Wangler, Michael F.

Genet Med ; 22(8): 1407-1412, 2020 08.

Article in English | MEDLINE | ID: mdl-32371920

15.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Vetrini, Francesco; D'Alessandro, Lisa C A; Akdemir, Zeynep C; Braxton, Alicia; Azamian, Mahshid S; Eldomery, Mohammad K; Miller, Kathryn; Kois, Chelsea; Sack, Virginia; Shur, Natasha; Rijhsinghani, Asha; Chandarana, Jignesh; Ding, Yan; Holtzman, Judy; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Hanchard, Neil A; Harel, Tamar; Rosenfeld, Jill A; Belmont, John W; Lupski, James R; Yang, Yaping.

Am J Hum Genet ; 99(4): 886-893, 2016 Oct 06.

Article in English | MEDLINE | ID: mdl-27616478

16.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Lalani, Seema R; Liu, Pengfei; Rosenfeld, Jill A; Watkin, Levi B; Chiang, Theodore; Leduc, Magalie S; Zhu, Wenmiao; Ding, Yan; Pan, Shujuan; Vetrini, Francesco; Miyake, Christina Y; Shinawi, Marwan; Gambin, Tomasz; Eldomery, Mohammad K; Akdemir, Zeynep Hande Coban; Emrick, Lisa; Wilnai, Yael; Schelley, Susan; Koenig, Mary Kay; Memon, Nada; Farach, Laura S; Coe, Bradley P; Azamian, Mahshid; Hernandez, Patricia; Zapata, Gladys; Jhangiani, Shalini N; Muzny, Donna M; Lotze, Timothy; Clark, Gary; Wilfong, Angus; Northrup, Hope; Adesina, Adekunle; Bacino, Carlos A; Scaglia, Fernando; Bonnen, Penelope E; Crosson, Jane; Duis, Jessica; Maegawa, Gustavo H B; Coman, David; Inwood, Anita; McGill, Jim; Boerwinkle, Eric; Graham, Brett; Beaudet, Art; Eng, Christine M; Hanchard, Neil A; Xia, Fan; Orange, Jordan S; Gibbs, Richard A; Lupski, James R.

Am J Hum Genet ; 98(2): 347-57, 2016 Feb 04.

Article in English | MEDLINE | ID: mdl-26805781

17.

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.

Schulze, Katharina V; Bhatt, Amit; Azamian, Mahshid S; Sundgren, Nathan C; Zapata, Gladys E; Hernandez, Patricia; Fox, Karin; Kaiser, Jeffrey R; Belmont, John W; Hanchard, Neil A.

Genet Med ; 21(11): 2453-2461, 2019 11.

Article in English | MEDLINE | ID: mdl-30992551

18.

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

Pillai, Nishitha R; AlDhaheri, Noura S; Ghosh, Rajarshi; Lim, Jaehyung; Streff, Haley; Nayak, Anuranjita; Graham, Brett H; Hanchard, Neil A; Elsea, Sarah H; Scaglia, Fernando.

Am J Med Genet A ; 179(10): 2138-2143, 2019 10.

Article in English | MEDLINE | ID: mdl-31290619

19.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Hanchard, Neil A; Swaminathan, Shanker; Bucasas, Kristine; Furthner, Dieter; Fernbach, Susan; Azamian, Mahshid S; Wang, Xueqing; Lewin, Mark; Towbin, Jeffrey A; D'Alessandro, Lisa C A; Morris, Shaine A; Dreyer, William; Denfield, Susan; Ayres, Nancy A; Franklin, Wayne J; Justino, Henri; Lantin-Hermoso, M Regina; Ocampo, Elena C; Santos, Alexia B; Parekh, Dhaval; Moodie, Douglas; Jeewa, Aamir; Lawrence, Emily; Allen, Hugh D; Penny, Daniel J; Fraser, Charles D; Lupski, James R; Popoola, Mojisola; Wadhwa, Lalita; Brook, J David; Bu'Lock, Frances A; Bhattacharya, Shoumo; Lalani, Seema R; Zender, Gloria A; Fitzgerald-Butt, Sara M; Bowman, Jessica; Corsmeier, Don; White, Peter; Lecerf, Kelsey; Zapata, Gladys; Hernandez, Patricia; Goodship, Judith A; Garg, Vidu; Keavney, Bernard D; Leal, Suzanne M; Cordell, Heather J; Belmont, John W; McBride, Kim L.

Hum Mol Genet ; 25(11): 2331-2341, 2016 06 01.

Article in English | MEDLINE | ID: mdl-26965164

20.

Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition.

Mwesigwa, Savannah; Moulds, Joann M; Chen, Alice; Flanagan, Jonathan; Sheehan, Vivien A; George, Alex; Hanchard, Neil A.

Transfusion ; 58(3): 726-735, 2018 03.

Article in English | MEDLINE | ID: mdl-29210071

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