C
Chad R. Haldeman-Englert
Researcher at Wake Forest University
Publications - 35
Citations - 1803
Chad R. Haldeman-Englert is an academic researcher from Wake Forest University. The author has contributed to research in topics: Global developmental delay & Exome sequencing. The author has an hindex of 15, co-authored 33 publications receiving 1601 citations. Previous affiliations of Chad R. Haldeman-Englert include University of Pennsylvania & Children's Hospital of Philadelphia.
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Journal ArticleDOI
Microduplications of 16p11.2 are Associated with Schizophrenia
Shane McCarthy,Vladimir Makarov,George Kirov,Anjené M. Addington,Jon McClellan,Seungtai Yoon,Diana O. Perkins,Diane E. Dickel,Mary Kusenda,Mary Kusenda,Olga Krastoshevsky,Verena Krause,Ravinesh A. Kumar,D. Grozeva,Dheeraj Malhotra,Tom Walsh,Elaine H. Zackai,Paige Kaplan,Jaya Ganesh,Ian D. Krantz,Nancy B. Spinner,Patricia Roccanova,Abhishek Bhandari,Kevin Pavon,B. Lakshmi,B. Lakshmi,Anthony Leotta,Jude Kendall,Yoon-ha Lee,Vladimir Vacic,Sydney Gary,Lilia M. Iakoucheva,Timothy J. Crow,Susan L. Christian,Jeffrey A. Lieberman,T. Scott Stroup,Terho Lehtimäki,Kaija Puura,Chad R. Haldeman-Englert,Justin Pearl,Meredith Goodell,Virginia L. Willour,Pamela DeRosse,Jo Steele,Layla Kassem,Jessica Wolff,Nisha Chitkara,Francis J. McMahon,Anil K. Malhotra,James B. Potash,Thomas G. Schulze,Thomas G. Schulze,Markus M. Nöthen,Sven Cichon,Marcella Rietschel,Marcella Rietschel,Ellen Leibenluft,Vlad Kustanovich,Clara Lajonchere,James S. Sutcliffe,David Skuse,Michael Gill,Louise Gallagher,Nancy R. Mendell,Nicholas John Craddock,Michael John Owen,Michael Conlon O'Donovan,Tamim H. Shaikh,Ezra Susser,Lynn E. DeLisi,Lynn E. DeLisi,Patrick F. Sullivan,Curtis K. Deutsch,Curtis K. Deutsch,Judith L. Rapoport,Deborah L. Levy,Mary Claire King,Jonathan Sebat +77 more
TL;DR: A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia, bipolar disorder, and autism, while the reciprocal microdeletion was associated only with autism and developmental disorders.
Journal ArticleDOI
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
Tamim H. Shaikh,Xiaowu Gai,Juan C. Perin,Joseph T. Glessner,Hongbo Xie,Kevin Murphy,Ryan O'Hara,Tracy Casalunovo,Laura K. Conlin,Monica D’Arcy,Edward C. Frackelton,Elizabeth A. Geiger,Chad R. Haldeman-Englert,Marcin Imielinski,Cecilia E. Kim,Livija Medne,Kiran Annaiah,Jonathan P. Bradfield,Elvira Dabaghyan,Andrew W. Eckert,Chioma C. Onyiah,Svetlana Ostapenko,F. George Otieno,Erin Santa,Julie L. Shaner,Robert Skraban,Ryan M. Smith,Josephine Elia,Elizabeth Goldmuntz,Nancy B. Spinner,Elaine H. Zackai,Rosetta M. Chiavacci,Robert W. Grundmeier,Eric F. Rappaport,Struan F.A. Grant,Peter White,Hakon Hakonarson +36 more
TL;DR: A database of copy number variations detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays, is presented, demonstrating the utility of this data set in distinguishing CNVs with pathologic significance from normal variants.
Journal ArticleDOI
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Jessica X. Chong,Margaret J. McMillin,Kathryn M. Shively,Anita E. Beck,Colby T. Marvin,Jose R. Armenteros,Kati J. Buckingham,Naomi T. Nkinsi,Evan A. Boyle,Margaret N. Berry,Maureen Bocian,Nicola Foulds,Maria Luisa Giovannucci Uzielli,Chad R. Haldeman-Englert,Raoul C.M. Hennekam,Paige Kaplan,Antonie D. Kline,Catherine Mercer,Małgorzata J.M. Nowaczyk,Jolien S. Klein Wassink-Ruiter,Elizabeth McPherson,Regina A. Moreno,Angela E. Scheuerle,Vandana Shashi,Cathy A. Stevens,John C. Carey,Arnaud Monteil,Philippe Lory,Holly K. Tabor,Joshua D. Smith,Jay Shendure,Deborah A. Nickerson,Michael J. Bamshad +32 more
TL;DR: Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome and identified 14 mutations predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments.
Journal ArticleDOI
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
Karina Tuz,Ruxandra Bachmann-Gagescu,Diana R. O’Day,Kiet Hua,Christine R. Isabella,Ian G. Phelps,Allan Stolarski,Brian J. O'Roak,Jennifer C. Dempsey,Charles Marques Lourenço,Abdulrahman Alswaid,Carsten G. Bönnemann,Livija Medne,Sheela Nampoothiri,Zornitza Stark,Richard J. Leventer,Meral Topçu,Ali Cansu,Sujatha Jagadeesh,Stephen Done,Gisele E. Ishak,Ian A. Glass,Jay Shendure,Stephan C.F. Neuhauss,Chad R. Haldeman-Englert,Dan Doherty,Dan Doherty,Russell J. Ferland +27 more
TL;DR: CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans; however, the mechanism by which these mutations lead to both JBTS and JATD remains unknown.
Journal ArticleDOI
Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region
Justine Coppinger,Donna M. McDonald-McGinn,Elaine H. Zackai,Kate Shane,Joan F. Atkin,Alexander Asamoah,Robert Leland,David D. Weaver,Susan Lansky-Shafer,Karen R Schmidt,Heidi M. Feldman,William I. Cohen,Judy Phalin,Berkley R. Powell,Blake C. Ballif,Aaron Theisen,Elizabeth A. Geiger,Chad R. Haldeman-Englert,Tamim H. Shaikh,Sulagna C. Saitta,Bassem A. Bejjani,Bassem A. Bejjani,Lisa G. Shaffer +22 more
TL;DR: The identification of 18 individuals with microduplications of 22q11.21-q 11.2 region distal to the DiGeorge/velocardiofacial microdeletion region is reported, with shared characteristics, but also several examples of contradicting clinical features.