Author details

Full Name

Richard P Lifton

Affiliation

The Rockefeller University

ORCID

Career Start Year

1976

Papers

417

H Index

125

Expertise

CM4AI Collaborator

Trey Ideker (CM4AI)

PMID	Paper Title	Journal Title	Published Year
35997807	De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.	Hum Genet	2023
35739418	Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".	Cereb Cortex	2023
35997807	De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.	Hum Genet	2023
36414417	Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.	J Am Soc Nephrol	2023
38091523	LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.	Elife	2023
37978175	Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.	Nat Commun	2023
37698934	Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities.	JCI Insight	2023
37337107	Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.	Nat Genet	2023
37086723	De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.	Am J Hum Genet	2023
36879130	Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.	Nat Med	2023
37126322	Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.	JAMA Neurol	2023
36803604	The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.	Cell	2023
36995132	Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.	J Am Soc Nephrol	2023
36993720	A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.	medRxiv	2023
36993588	Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.	bioRxiv	2023
36865175	LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.	bioRxiv	2023
36538032	Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.	Science	2023
37043537	Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.	Proc Natl Acad Sci U S A	2023
37698934	Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities.	JCI Insight	2023
37978175	Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.	Nat Commun	2023
38091523	LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.	Elife	2023
35739418	Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".	Cereb Cortex	2023
37126322	Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.	JAMA Neurol	2023
36993720	A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.	medRxiv	2023
36993588	Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.	bioRxiv	2023
37086723	De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.	Am J Hum Genet	2023
37043537	Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.	Proc Natl Acad Sci U S A	2023
37337107	Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.	Nat Genet	2023
36995132	Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.	J Am Soc Nephrol	2023
36879130	Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.	Nat Med	2023
36803604	The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.	Cell	2023
36538032	Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.	Science	2023
36865175	LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.	bioRxiv	2023
36414417	Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.	J Am Soc Nephrol	2023
33436522	Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.	J Med Genet	2022
35460704	Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.	J Lipid Res	2022
35708626	Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.	J Exp Med	2022
36231052	A Novel Missense Mutation in <i>ERCC8</i> Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.	Cells	2022
35576468	The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.	Proc Natl Acad Sci U S A	2022
35379995	Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.	Nat Neurosci	2022
35481623	Mutation spectrum of congenital heart disease in a consanguineous Turkish population.	Mol Genet Genomic Med	2022
35666111	Quantifying concordant genetic effects of de novo mutations on multiple disorders.	Elife	2022
33436522	Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.	J Med Genet	2022
35043109	The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.	Res Sq	2022
35040250	Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.	Am J Med Genet A	2022
34851365	The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.	JAMA Dermatol	2022
35130025	Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.	Circ Genom Precis Med	2022
35286293	Genetic Influence on Neurodevelopment in Nonsyndromic Craniosynostosis.	Plast Reconstr Surg	2022
35481623	Mutation spectrum of congenital heart disease in a consanguineous Turkish population.	Mol Genet Genomic Med	2022
35708626	Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.	J Exp Med	2022

1 - 50 of 834

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 36

Yiran Guo

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Career Start Year 2007

Number of shared co-authors 46

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 27

Hana Lango Allen

Institute of Metabolic Science, University of Cambridge

Career Start Year 2007

Number of shared co-authors 67

Yi Fu

Biofuels Institute, Jiangsu University

Career Start Year 2006

Number of shared co-authors 3

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 59

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 22

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 44

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 24

Ulrich Broeckel

Medical College of Wisconsin

Career Start Year 1998

Number of shared co-authors 61

Yen-Pei C Chang

University of Maryland School of Medicine

Career Start Year 1997

Number of shared co-authors 69

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 25

John F O'Toole

Cleveland Clinic

Career Start Year 1994

Number of shared co-authors 15

David J Cutler

Emory University School of Medicine

Career Start Year 1994

Number of shared co-authors 47

Syed H E Zaidi

Ontario Institute for Cancer Research

Career Start Year 1994

Number of shared co-authors 14

Juli??n Nevado

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 10

Patrick S Tarpey

Wellcome Trust Sanger Institute

Career Start Year 1992

Number of shared co-authors 8

Richard N Sandford

University of Cambridge

Career Start Year 1991

Number of shared co-authors 14

Stephen F Kingsmore

Rady Children's Institute for Genomic Medicine

Career Start Year 1988

Number of shared co-authors 18

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 71

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 72

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 20

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 139

Thomas C Markello

National Institutes of Health

Career Start Year 1982

Number of shared co-authors 14

Alfred L George

Northwestern University Feinberg School of Medicine

Career Start Year 1978

Number of shared co-authors 28

Kim M Summers

Mater Research Institute-University of Queensland, Translational Research Institute

Career Start Year 1977

Number of shared co-authors 4

Mark Lathrop

Victor Philip Dahdaleh Institute of Genomic Medicine at McGill University

Career Start Year 1975

Number of shared co-authors 119

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 51

Norbert H??bner

Max Delbruck Center for Molecular Medicine in the Helmholtz Association (MDC)

Career Start Year 1971

Number of shared co-authors 47

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Career Start Year 1969

Number of shared co-authors 33

row(s) 1 - 30 of 30

Shrikant Mane

Yale School of Medicine

Co-authored papers 99

Murat Gunel

Yale School of Medicine

Co-authored papers 52

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Co-authored papers 51

Friedhelm Hildebrandt

Boston Children's Hospital

Co-authored papers 44

Ali G Gharavi

Columbia University College of Physicians and Surgeons

Co-authored papers 28

Matthew W State

UCSF Weill Institute for Neurosciences, University of California san francisco

Co-authored papers 28

Hongyu Zhao

Yale University

Co-authored papers 21

Martina Brueckner

Co-authored papers 18

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Co-authored papers 13

John D Overton

Regeneron Pharmaceuticals

Co-authored papers 13

Bruce D Gelb

Icahn School of Medicine at Mount Sinai

Co-authored papers 13

Krzysztof Kiryluk

Columbia University

Co-authored papers 13

Elizabeth Goldmuntz

Co-authored papers 12

Irina R Tikhonova

School of Pharmacy, Queen's University Belfast

Co-authored papers 12

Francesc L??pez-Gir??ldez

Yale Center for Genomic Analysis

Co-authored papers 12

Nenad Sestan

Yale School of Medicine

Co-authored papers 12

Christine E Seidman

Brigham and Women's Hospital (Y.K.

Co-authored papers 11

Seth L Alper

Beth Israel Deaconess Medical Center RN380F

Co-authored papers 11

Shozeb Haider

Co-authored papers 11

Stephan J Sanders

Co-authored papers 10

Mustafa K Khokha

Yale University School of Medicine

Co-authored papers 9

Jonathan G Seidman

Harvard Medical School

Co-authored papers 9

SÃlvia Vilarinho

Co-authored papers 9

Vivette D D'Agati

Columbia University Irving Medical Center

Co-authored papers 8

Christopher Castaldi

Yale Center for Genome Analysis, Yale School of Medicine

Co-authored papers 8

Richard Kim

Co-authored papers 8

Steven C Hunt

Co-authored papers 8

Thomas M Morgan

Co-authored papers 8

David L Rimm

Yale University School of Medicine

Co-authored papers 8

George A Porter

Co-authored papers 7

1 - 30

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