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Author Details

Robin D Clark
Loma Linda University Health
1994
22
11
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37165955Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.Genet Med2023
37377026Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.Am J Med Genet A2023
34321323O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.J Med Genet2022
35871307ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.Ann Clin Transl Neurol2022
35037400Delayed diagnosis and racial bias in children with genetic conditions.Am J Med Genet A2022
33417889A dyadic approach to the delineation of diagnostic entities in clinical genomics.Am J Hum Genet2021
34478656Response to Hamosh et al.Am J Hum Genet2021
34212383CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.Clin Genet2021
32718497Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting.Clin Lab Med2020
31814248Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.Am J Med Genet A2020
32889803Unbalanced Whole-Arm Translocation der(18;21)(q10;q10) in Hematological Malignancies.J Assoc Genet Technol2020
30614194Cornelia de Lange syndrome in diverse populations.Am J Med Genet A2019
31735666Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.Dev Cell2019
24746959Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.Am J Hum Genet2014
25259927A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.Cell2014
24782230Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.Am J Med Genet A2014
22726846Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.Am J Hum Genet2012
22958903Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Am J Hum Genet2012
19225462A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.Eur J Hum Genet2009
15150541Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.Eur J Hum Genet2004
11200995Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.Pediatr Radiol2001
7977365Parent-of-origin effects in multiple endocrine neoplasia type 2B.Am J Hum Genet1994
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Collaborators

Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 6
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 5
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 3
James R Lupski
Baylor College of Medicine
Co-authored papers 3
Elliott H Sherr
Co-authored papers 3
Nichole Link
University of Utah
Co-authored papers 3
William B Dobyns
University of Minnesota
Co-authored papers 3
Hugo J Bellen
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Leslie G Biesecker
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University of Oklahoma
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Christopher A Walsh
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Ian D Krantz
Children's Hospital of Philadelphia
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Christoffer Nell??ker
Big Data Institute, University of Oxford
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Hatip Aydin
Zeynep Kamil Maternity and Children's Training and Research Hospital
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Gareth Baynam
King Edward Memorial Hospital
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Charles E Schwartz
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Luitgard Graul-Neumann
Charite Universitaetsmedizin Berlin
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Timothy C Cox
University of Missouri-Kansas City Kansas City
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Adele Schneider
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Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 1
Julie S Cohen
Kennedy Krieger Institute
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Aniko Sabo
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Ke Zhang
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Release 1.2