Author details

Full Name

John A Bernat

Affiliation

University of Iowa Hospitals and Clinics

ORCID

Career Start Year

2002

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37634127	Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.	Genet Med	2023
37634127	Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.	Genet Med	2023
34505148	De novo missense variants in FBXO11 alter its protein expression and subcellular localization.	Hum Mol Genet	2022
35369680	Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy.	Gastroenterology Res	2022
35367141	The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?	Mol Genet Metab	2022
34505148	De novo missense variants in FBXO11 alter its protein expression and subcellular localization.	Hum Mol Genet	2022
35369680	Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy.	Gastroenterology Res	2022
35367141	The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?	Mol Genet Metab	2022
33650152	Presacral neuroendocrine tumors associated with the Currarino syndrome.	Am J Med Genet A	2021
33650152	Presacral neuroendocrine tumors associated with the Currarino syndrome.	Am J Med Genet A	2021
31618753	Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.	Pediatr Res	2020
31618753	Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.	Pediatr Res	2020
32710489	Genotype-phenotype correlation at codon 1740 of SETD2.	Am J Med Genet A	2020
33299629	Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings.	Case Rep Pediatr	2020
33299629	Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings.	Case Rep Pediatr	2020
32710489	Genotype-phenotype correlation at codon 1740 of SETD2.	Am J Med Genet A	2020
31352388	Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease.	BMJ Case Rep	2019
31352388	Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease.	BMJ Case Rep	2019
29300383	Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.	Genet Med	2018
29300383	Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.	Genet Med	2018
29330883	Genotype-phenotype correlations in individuals with pathogenic RERE variants.	Hum Mutat	2018
29330883	Genotype-phenotype correlations in individuals with pathogenic RERE variants.	Hum Mutat	2018
28686853	WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.	Am J Hum Genet	2017
28686853	WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.	Am J Hum Genet	2017
28588801	Interstitial lung disease of infancy caused by a new <i>NKX2-1</i> mutation.	Clin Case Rep	2017
28588801	Interstitial lung disease of infancy caused by a new <i>NKX2-1</i> mutation.	Clin Case Rep	2017
26227573	Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.	Am J Med Genet A	2015
26227573	Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.	Am J Med Genet A	2015
24694933	Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.	Hum Mol Genet	2014
24694933	Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.	Hum Mol Genet	2014
20449731	Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings.	Pediatr Radiol	2010
20449731	Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings.	Pediatr Radiol	2010
16344561	Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS).	Genome Res	2006
16344561	Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS).	Genome Res	2006
16723375	Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs.	Hum Mol Genet	2006
16723375	Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs.	Hum Mol Genet	2006
12717434	Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.	Nat Genet	2003
12717434	Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.	Nat Genet	2003
12376620	Heterochromatin protein 2 (HP2), a partner of HP1 in Drosophila heterochromatin.	Proc Natl Acad Sci U S A	2002
12376620	Heterochromatin protein 2 (HP2), a partner of HP1 in Drosophila heterochromatin.	Proc Natl Acad Sci U S A	2002

1 - 40 of 40

Yutaka Negishi

Gifu Prefectural Tajimi Hospital

Career Start Year 2010

Number of shared co-authors 0

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 2

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 5

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 7

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 9

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 4

Loren D M Pena

Duke University Medical Center

Career Start Year 2001

Number of shared co-authors 2

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 7

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 3

Andrew E Timms

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

Career Start Year 1998

Number of shared co-authors 6

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 7

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 3

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 8

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 8

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 7

Syed H E Zaidi

Ontario Institute for Cancer Research

Career Start Year 1994

Number of shared co-authors 1

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 13

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 4

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 8

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 4

Dina J Zand

Center for Drug Evaluation and Research

Career Start Year 1989

Number of shared co-authors 2

Cynthia J Tifft

National Human Genome Research Institute

Career Start Year 1988

Number of shared co-authors 2

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 8

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 14

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 3

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 5

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 8

Thomas C Markello

National Institutes of Health

Career Start Year 1982

Number of shared co-authors 1

John W Belmont

Baylor College of Medicine

Career Start Year 1979

Number of shared co-authors 5

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 3

row(s) 1 - 30 of 30

Donna M Martin

University of Michigan ann arbor

Co-authored papers 4

David Ginsburg

University of Michigan ann arbor

Co-authored papers 3

Francis S Collins

University of Michigan ann arbor

Co-authored papers 2

Gregory E Crawford

Center for Genomic & Computational Biology, Duke University

Co-authored papers 2

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Co-authored papers 1

Thomas J Vasicek

Howard Hughes Medical Institute, Princeton University

Co-authored papers 1

Sally Ann Lynch

University College Dublin

Co-authored papers 1

Petra St??be

Institute of Medical Genetics and Applied Genomics, University of Tuebingen

Co-authored papers 1

Seema R Lalani

Co-authored papers 1

Yaping Yang

Baylor College of Medicine

Co-authored papers 1

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Co-authored papers 1

Terry A Braun

University of Iowa

Co-authored papers 1

Daixing Zhou

Tongji Hospital, Huazhong University of Science and Technology

Co-authored papers 1

Deborah A Nickerson

University of Washington

Co-authored papers 1

Sarah C R Elgin

Co-authored papers 1

Jennefer N Kohler

Stanford Center for Undiagnosed Diseases

Co-authored papers 1

Megan T Cho

Co-authored papers 1

William B Dobyns

University of Minnesota

Co-authored papers 1

Kajia Cao

Co-authored papers 1

Elliott H Margulies

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 1

Mark J Daly

Massachusetts General Hospital

Co-authored papers 1

Tabib Dabir

Belfast City Hospital

Co-authored papers 1

Schahram Akbarian

Co-authored papers 1

Annika M Dries

Center for Inherited Cardiovascular Disease, Stanford University School of Medicine

Co-authored papers 1

Michael J Bamshad

University of Washington

Co-authored papers 1

James R Whittle

Walter and Eliza Hall Institute of Medical Research

Co-authored papers 1

Yidong Chen

Zhujiang Hospital, Southern Medical University

Co-authored papers 1

Shujun Luo

Predicine Inc.

Co-authored papers 1

Sean Davis

Johns Hopkins School of Medicine, National Cancer Institute, Princeton University, University of Colorado Anschutz Medical Campus, University of Pittsburgh, University of Washington

Co-authored papers 1

Susan R Davis

Co-authored papers 1

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