Skip to Main Content

Author Details

Friedhelm Hildebrandt
Boston Children's Hospital
1947
415
93
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37930417Nephronophthisis: a pathological and genetic perspective.Pediatr Nephrol2024
37670083Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.Pediatr Nephrol2024
36379543X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.J Med Genet2023
37524861The genetics and pathogenesis of CAKUT.Nat Rev Nephrol2023
37499630Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney.Nephron2023
36993625Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).medRxiv2023
37120605Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nat Commun2023
37213061Recessive CHRM5 variant as a potential cause of neurogenic bladder.Am J Med Genet A2023
37035301Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.Front Med (Lausanne)2023
37328841LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus.Cell Commun Signal2023
36694287A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.Am J Med Genet A2023
36847718Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2â¿¿years of life.Acta Paediatr2023
36571463OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.Genet Med2023
36414417Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.J Am Soc Nephrol2023
34525250A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.Am J Med Genet A2022
35851763Activation of 2-oxoglutarate receptor 1 (OXGR1) by α-ketoglutarate (αKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes.Physiol Rep2022
35778421PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.NPJ Genom Med2022
36208064Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.Am J Med Genet C Semin Med Genet2022
35947947Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation.Cell Rep2022
36185583Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.Eur Urol Open Sci2022
35163670Expression of a Truncated Form of <i>ODAD1</i> Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.Int J Mol Sci2022
35099770The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.J Nephrol2022
35040250Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.Am J Med Genet A2022
35120995Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila.Kidney Int2022
34906515Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.Genet Med2022
35137152A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.J Clin Endocrinol Metab2022
34473308Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.Nephrol Dial Transplant2022
34762194Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria.Pediatr Nephrol2022
32631816<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes.J Med Genet2021
33597122Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.J Am Soc Nephrol2021
33872655Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.J Allergy Clin Immunol2021
33593823Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome.J Am Soc Nephrol2021
33508234De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Am J Hum Genet2021
33531666A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.Genet Med2021
33863784A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (<i>RCAN1</i>) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.J Am Soc Nephrol2021
33523862Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice.Sci Adv2021
34739029Deep learning is widely applicable to phenotyping embryonic development and disease.Development2021
34521872Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.Sci Rep2021
34548398Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.Proc Natl Acad Sci U S A2021
34772415Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.BMC Med Genomics2021
34795679Corrigendum: Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study.Front Immunol2021
34149688Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study.Front Immunol2021
34145744Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.Am J Med Genet A2021
34338422Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.Am J Med Genet A2021
33097957Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.Nephrol Dial Transplant2021
30809662Personalized medicine in chronic kidney disease by detection of monogenic mutations.Nephrol Dial Transplant2020
33615072Recessive Mutations in <i>SYNPO2</i> as a Candidate of Monogenic Nephrotic Syndrome.Kidney Int Rep2020
33615071Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.Kidney Int Rep2020
31959358Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.Kidney Int2020
31950080PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.Sci Adv2020
  • 1 - 50 of 415

Recommended Authors

Laure Raymond
Sorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS
Career Start Year 2013
Number of shared co-authors 25
Zeynep Coban Akdemir
Baylor College of Medicine
Career Start Year 2012
Number of shared co-authors 40
Jair Tenorio
Institute of Medical and Molecular Genetics, Hospital University La Paz
Career Start Year 2012
Number of shared co-authors 4
Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Career Start Year 2011
Number of shared co-authors 32
Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Career Start Year 2008
Number of shared co-authors 17
Ahmet Okay Caglayan
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 31
David R Adams
National Human Genome Research Institute, National Institutes of Health
Career Start Year 2007
Number of shared co-authors 18
Shalini N Jhangiani
Baylor College of Medicine
Career Start Year 2007
Number of shared co-authors 47
Nara Sobreira
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 25
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Career Start Year 2005
Number of shared co-authors 49
Kati J Buckingham
University of Washington
Career Start Year 2005
Number of shared co-authors 13
Jennifer E Posey
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 34
John A Bernat
University of Iowa Hospitals and Clinics
Career Start Year 2002
Number of shared co-authors 4
Andrew E Timms
Center for Integrative Brain Research, Seattle Children's Research Institute
Career Start Year 1998
Number of shared co-authors 17
Vernon R Sutton
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 26
Pankaj B Agrawal
Broad Institute of MIT and Harvard
Career Start Year 1995
Number of shared co-authors 22
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Career Start Year 1993
Number of shared co-authors 28
Juli??n Nevado
Institute of Medical and Molecular Genetics
Career Start Year 1993
Number of shared co-authors 11
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
Career Start Year 1992
Number of shared co-authors 31
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 20
Ada Hamosh
Johns Hopkins University School of Medicine
Career Start Year 1991
Number of shared co-authors 32
Sanjay Jain
Washington University School of Medicine
Career Start Year 1990
Number of shared co-authors 6
Cornelius F Boerkoel
University of British Columbia
Career Start Year 1987
Number of shared co-authors 14
Han G Brunner
Maastricht University Medical Centre
Career Start Year 1987
Number of shared co-authors 59
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 39
Siddharth Banka
University of Manchester
Career Start Year 1986
Number of shared co-authors 43
Bruce D Gelb
Icahn School of Medicine at Mount Sinai
Career Start Year 1985
Number of shared co-authors 22
Thomas C Markello
National Institutes of Health
Career Start Year 1982
Number of shared co-authors 8
Robert L Nussbaum
Invitae Corporation
Career Start Year 1976
Number of shared co-authors 12
Asl??han Tolun
Istanbul Technical University
Career Start Year 1974
Number of shared co-authors 27

Collaborators

Richard P Lifton
The Rockefeller University
Co-authored papers 44
Shrikant Mane
Yale School of Medicine
Co-authored papers 40
Heymut Omran
University Hospital Muenster
Co-authored papers 25
John A Sayer
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 25
Nicholas Katsanis
Northwestern University
Co-authored papers 19
John F O'Toole
Cleveland Clinic
Co-authored papers 18
Martin Zenker
Co-authored papers 16
Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
Co-authored papers 14
Detlef Bockenhauer
Great Ormond Street Hospital for Children, NHS Foundation Trust
Co-authored papers 12
Ali G Gharavi
Columbia University College of Physicians and Surgeons
Co-authored papers 11
Shawn Levy
HudsonAlpha Institute for Biotechnology
Co-authored papers 10
Joseph G Gleeson
University of California
Co-authored papers 9
Dan Doherty
University of Washington
Co-authored papers 9
Rachel H Giles
University Medical Center Utrecht
Co-authored papers 8
Matthew G Sampson
Co-authored papers 8
Philip L Beales
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 7
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 7
Enza Maria Valente
University of Pavia
Co-authored papers 7
Krzysztof Kiryluk
Columbia University
Co-authored papers 7
Monkol Lek
Co-authored papers 7
Jennifer L Silhavy
University of California
Co-authored papers 6
Moin A Saleem
Co-authored papers 6
Martin R Pollak
Co-authored papers 6
Clare V Logan
Co-authored papers 6
James W MacDonald
University of Washington
Co-authored papers 5
Patrick Nitschke
Co-authored papers 5
Anand Swaroop
National Eye Institute, National Institutes of Health
Co-authored papers 5
Mustafa K Khokha
Yale University School of Medicine
Co-authored papers 5
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 4
Maddalena Marasa
Columbia University College of Physicians and Surgeons
Co-authored papers 4
Release 1.2