Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

(2016) Vandana Shashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Muenke syndrome: An international multicenter natural history study

(2016) Paul Kruszka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reverse phenotyping comes of age

(2016) Vera Uliana et al.   MOLECULAR GENETICS AND METABOLISM

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment

(2015) Victor M. Salinas-Torres   CHILDS NERVOUS SYSTEM

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Making the Diagnosis

(2013) Craig B. Birgfeld et al.   JOURNAL OF CRANIOFACIAL SURGERY

Variable Expressivity and Clinical Heterogeneity Can Complicate the Diagnosis and Management of Pfeiffer Syndrome

(2013) Nicholas Ettinger et al.   JOURNAL OF CRANIOFACIAL SURGERY

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

(2012) Benjamin D Solomon et al.   JOURNAL OF MEDICAL GENETICS

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

Novel Heterozygous NonsenseGLI2Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

(2010) Marcela M. França et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

The clinical atlas of Greig cephalopolysyndactyly syndrome

(2008) Katherine Balk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

(2008) Mariëlle E.M. Swinkels et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A