Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Antonia Kwan, Roshini S. Abraham, Robert J. Currier, +75

JAMA

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, +37

Nature Genetics

Developmental AnomalyDevelopmental BiologyBrain DevelopmentRecurrent Reciprocal 1Q21.1Genetics +5

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

Jonathan S. Berg, Nicola Brunetti‐Pierri, Sarika U. Peters, +20

Genetics in Medicine

Neurodevelopmental DisordersWilliams-beuren Syndrome RegionPsychiatrySyndromic AutismPediatrics +13

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello, +16

The American Journal of Human Genetics

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Karin Weiss, Lior Cohen, Michael Bruccoleri, +23

The American Journal of Human Genetics

ChromatinChromatin StructureDistinctive DysmorphismsGenetic DisorderIntellectual Disability Syndrome +9

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Beth Vogel, Sue Bradley, Darius J. Adams, +15

Molecular Genetics and Metabolism

Early DiagnosisNew York StateNeonatologyDiagnostic ProtocolPediatrics +6

Newborn Screening for SCID in New York State: Experience from the First Two Years

Beth Vogel, Vincent R. Bonagura, Geoffrey A. Weinberg, +15

Journal of Clinical Immunology

Early DiagnosisNew York StateNewborn ScreeningNeonatologyFirst Two +8

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf, +35

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +4

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Linshan Shang, Lindsay B. Henderson, Megan T. Cho, +16

Neurogenetics

Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsNeuroscience +5

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

Douglas A. Marchuk, Roxanne Tavakkol, Margaret R. Wallace, +7

Genomics

ChromatinType 1Mendelian DisorderNeurofibromatosis GeneGenetic Disorder +8