David A Sweetser

Lauren C Briere 14 collaborations

None None 14 collaborations

Melissa A Walker 9 collaborations

Frances A High 9 collaborations

Oguz Kanca 5 collaborations

Shinya Yamamoto 5 collaborations

Hugo J Bellen 5 collaborations

Michael F Wangler 4 collaborations

Wendy K Chung 4 collaborations

Shenzhao Lu 4 collaborations

Jill Clayton-Smith 3 collaborations

Christiane Zweier 3 collaborations

Evangelos Theodorou 3 collaborations

Xueyang Pan 3 collaborations

Mengqi Ma 3 collaborations

Lauren O'Grady 3 collaborations

Paul C Marcogliese 2 collaborations

Joel Krier 2 collaborations

Undiagnosed Diseases Network 2 collaborations

Maria Iascone 2 collaborations

Emily Bryant 2 collaborations

Antonio Vitobello 2 collaborations

Laurence Faivre 2 collaborations

Parul Jayakar 2 collaborations

Lynn Pais 2 collaborations

Maria J Guillen Sacoto 2 collaborations

Irina Anselm 2 collaborations

Pankaj B Agrawal 2 collaborations

Mieke M van Haelst 2 collaborations

Eric W Klee 2 collaborations

Rhonda E Schnur 2 collaborations

Alexander P A Stegmann 2 collaborations

Bert B A de Vries 2 collaborations

Marcella Zollino 2 collaborations

Emilia K Bijlsma 2 collaborations

Lance Rodan 2 collaborations

Albert N Alvarez 2 collaborations

Michael W Crawford 2 collaborations

Jenny L Wilson 2 collaborations

Ruth J Napier 2 collaborations

Jonathan N Pruneda 2 collaborations

Cassandra A Rogers 2 collaborations

Richard Person 2 collaborations

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Affiliations

Publications (27)

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

A genome-wide DNA methylation signature for SETD1B-related syndrome.

TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development.

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Tle4 controls both developmental acquisition and early post-natal maturation of corticothalamic projection neuron identity.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

A post-transcriptional program of chemoresistance by AU-rich elements and TTP in quiescent leukemic cells.

A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Allelic strengths of encephalopathy-associated

A description of novel variants and review of phenotypic spectrum in

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Gain-of-function mutations in

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

A retrospective study of adult patients with noncirrhotic hyperammonemia.

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Allelic strengths of encephalopathy-associated

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Réseau de co-auteurs