V. Hannig

发表

A Copy Number Variation Morbidity Map of Developmental Delay

Gregory M. Cooper, Carl Baker, Evan E. Eichler, 2011, Nature Genetics.

Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors.

J. Phillips, S. Reeders, V. Hannig, 1991, American journal of medical genetics.

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

P. Stankiewicz, P. Szafranski, Ankita Patel, 2012, Human molecular genetics.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell–Silver syndrome

S. Scherer, C. Cytrynbaum, R. Weksberg, 2016, American journal of medical genetics. Part A.

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Kendall J. Burdick, Amy K. Robertson, J. Cogan, 2020, American journal of medical genetics. Part A.

Utilization and evaluation of living-related donors for patients with adult polycystic kidney disease.

J. Phillips, V. Hannig, S. M. Erickson, 1992, American journal of medical genetics.

Genes and Pulmonary Hypertension: Update 2006

J. Cogan, J. Newman, J. Phillips, 2006 .

What Patients and Their Relatives Think About Testing for BMPR2

Robert C. Saunders, E. Clayton, J. Sandberg, 2008, Journal of Genetic Counseling.

Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening.

E. Clayton, R. Parker, J. Phillips, 1996, American journal of human genetics.

Corrigendum: A copy number variation morbidity map of developmental delay

B. Coe, J. Rosenfeld, C. Baker, 2014, Nature Genetics.

Developmental change in human intestinal alkaline phosphatase.

H. Harris, R. Mulivor, V. Hannig, 1978, Proceedings of the National Academy of Sciences of the United States of America.

Teaching about cystic fibrosis carrier screening by using written and video information.

E. Clayton, R. Parker, J. Phillips, 1995, American journal of human genetics.

Whose DNA is it anyway? Relationships between families and researchers.

E. Clayton, V. Hannig, K. M. Edwards, 1993, American journal of medical genetics.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

A Novel SHOC2 Variant in Rasopathy

Eun Ryoung Jang, E. Galperin, J. Phillips, 2014, Human mutation.

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.

J. Gécz, J. Haines, L. Carrel, 2001, American journal of human genetics.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, A. Beaudet, S. Lalani, 2017, Journal of autism and developmental disorders.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, S. Lalani, M. Shinawi, 2016, Journal of Autism and Developmental Disorders.

Phenotypic heterogeneity of ZMPSTE24 deficiency

Amy K. Robertson, J. Cogan, J. Newman, 2018, American journal of medical genetics. Part A.

Alopecia/mental retardation syndrome.

V. Hannig, G. Tiller, 1995, American journal of medical genetics.

Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.

L. Jordan, J. Wellons, A. Rattani, 2017, Journal of neurosurgery. Pediatrics.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.