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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

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Title: Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Authors: Connaughton DM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Nephrology, Department of Medicine, University Hospital - London Health Sciences Centre, Schulich School of Medicine & Dentistry, Western University, 339 Windermere Road, London, ON N6A 5A5, Canada., Dai R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China., Owen DJ; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Graham-Paquin AL; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada., Nakayama M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Coyaud E; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France., Laurent EMN; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France., St-Germain JR; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada., Blok LS; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands; Human Genetics Department, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands., Vino A; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Klämbt V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Deutsch K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wu CW; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kause F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Ottlewski I; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Youying M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kolb A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Salmanullah D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chen E; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Rao J; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China., Ityel H; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Rieke JM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chen J; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Vivante A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Tel Aviv University, Faculty of Medicine, Tel Aviv-Yafo 6997801, Israel., Hwang DY; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kohl S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Dworschak GC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hermle T; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Alders M; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 Amsterdam, Netherlands., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany., Bauer SB; Department of Urology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Baum MA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Brilstra EH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Challman TD; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA., Zyskind J; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA., Costin CE; Department of Clinical Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH 44308, USA., Dipple KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Duijkers FA; Department of Clinical Genetics, University of Amsterdam, 1012 WX Amsterdam, the Netherlands., Ferguson M; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA., Fitzpatrick DR; MRC Institute of Genetics & Molecular Medicine, Royal Hospital for Sick Children, The University of Edinburgh, 2XU, Crewe Rd S, Edinburgh EH4 2XU, UK., Fick R; Mary Bridge Childrens Hospital, 316 Martin Luther King JR Way, Tacoma, WA 98405, USA., Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, 1000 Central Street, Suite 610, Evanston, IL 60201, USA., Kline AD; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany; Swiss Epilepsy Center, Klinik Lengg, Bleulerstrasse 60, 8000 Zürich, Switzerland., Kumar S; Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, Tamil Salai, Egmore, Chennai, Tamil Nadu 600008, India., Lu W; Renal Section, Department of Medicine, Boston University Medical Center, 650 Albany Street, Boston, MA 02118, USA., Marco EJ; Cortica Healthcare, 4000 Civic Center Drive, Ste 100, San Rafael, CA 94939, USA., Wentzensen IM; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany., Povolotskaya IS; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia., Savatt JM; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA., Shcherbakova NV; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia., Senguttuvan P; Department of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, No.2, Mc Nichols Rd, Chetpet, Chennai, Tamil Nadu 600031, India., Squire AE; Seattle Children's Hospital, Department of Genetic Medicine, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Stein DR; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2401 Gillham Rd, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, 5000 Holmes St, Kansas City, MO 64110, USA., Voinova VY; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia., Somers MJG; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Ferguson MA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Traum AZ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Daouk GH; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Daga A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Rodig NM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Terhal PA; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Eid LA; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates., Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia., Rasouly HM; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Lim TY; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Ahram DF; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Gharavi AG; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Reutter HM; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany; Section of Neonatology and Pediatric Intensive Care, Clinic for Pediatrics, University Hospital Bonn, Adenauerallee 119, 53313 Bonn, Germany., Rehm HL; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., Laricchia KM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., Lifton RP; The Rockefeller University, 1230 York Ave, New York, NY 10065, USA., Xu H; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China., Mane SM; Department of Genetics, Yale University School of Medicine, 333 Cedar St, New Haven, CT 06510, USA., Sanna-Cherchi S; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Sharrocks AD; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Raught B; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands., Bouchard M; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada., Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Source: American journal of human genetics [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 727-742. Date of Electronic Publication: 2020 Sep 04.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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Items – Name: Title
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  Data: Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Connaughton+DM%22">Connaughton DM</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Nephrology, Department of Medicine, University Hospital - London Health Sciences Centre, Schulich School of Medicine & Dentistry, Western University, 339 Windermere Road, London, ON N6A 5A5, Canada.<br /><searchLink fieldCode="AU" term="%22Dai+R%22">Dai R</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Owen+DJ%22">Owen DJ</searchLink>; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.<br /><searchLink fieldCode="AU" term="%22Marquez+J%22">Marquez J</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.<br /><searchLink fieldCode="AU" term="%22Mann+N%22">Mann N</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Graham-Paquin+AL%22">Graham-Paquin AL</searchLink>; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada.<br /><searchLink fieldCode="AU" term="%22Nakayama+M%22">Nakayama M</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Coyaud+E%22">Coyaud E</searchLink>; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France.<br /><searchLink fieldCode="AU" term="%22Laurent+EMN%22">Laurent EMN</searchLink>; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France.<br /><searchLink fieldCode="AU" term="%22St-Germain+JR%22">St-Germain JR</searchLink>; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada.<br /><searchLink fieldCode="AU" term="%22Blok+LS%22">Blok LS</searchLink>; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands; Human Genetics Department, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vino+A%22">Vino A</searchLink>; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Klämbt+V%22">Klämbt V</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Deutsch+K%22">Deutsch K</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Wu+CW%22">Wu CW</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kolvenbach+CM%22">Kolvenbach CM</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kause+F%22">Kause F</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Ottlewski+I%22">Ottlewski I</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Schneider+R%22">Schneider R</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kitzler+TM%22">Kitzler TM</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Majmundar+AJ%22">Majmundar AJ</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Buerger+F%22">Buerger F</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Onuchic-Whitford+AC%22">Onuchic-Whitford AC</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Youying+M%22">Youying M</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kolb+A%22">Kolb A</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Salmanullah+D%22">Salmanullah D</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Chen+E%22">Chen E</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22van+der+Ven+AT%22">van der Ven AT</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Rao+J%22">Rao J</searchLink>; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Ityel+H%22">Ityel H</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Seltzsam+S%22">Seltzsam S</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Rieke+JM%22">Rieke JM</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Vivante+A%22">Vivante A</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Tel Aviv University, Faculty of Medicine, Tel Aviv-Yafo 6997801, Israel.<br /><searchLink fieldCode="AU" term="%22Hwang+DY%22">Hwang DY</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Dworschak+GC%22">Dworschak GC</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Hermle+T%22">Hermle T</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Bartolomaeus+T%22">Bartolomaeus T</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Bauer+SB%22">Bauer SB</searchLink>; Department of Urology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Baum+MA%22">Baum MA</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Brilstra+EH%22">Brilstra EH</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Challman+TD%22">Challman TD</searchLink>; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA.<br /><searchLink fieldCode="AU" term="%22Zyskind+J%22">Zyskind J</searchLink>; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Costin+CE%22">Costin CE</searchLink>; Department of Clinical Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH 44308, USA.<br /><searchLink fieldCode="AU" term="%22Dipple+KM%22">Dipple KM</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Duijkers+FA%22">Duijkers FA</searchLink>; Department of Clinical Genetics, University of Amsterdam, 1012 WX Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ferguson+M%22">Ferguson M</searchLink>; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA.<br /><searchLink fieldCode="AU" term="%22Fitzpatrick+DR%22">Fitzpatrick DR</searchLink>; MRC Institute of Genetics & Molecular Medicine, Royal Hospital for Sick Children, The University of Edinburgh, 2XU, Crewe Rd S, Edinburgh EH4 2XU, UK.<br /><searchLink fieldCode="AU" term="%22Fick+R%22">Fick R</searchLink>; Mary Bridge Childrens Hospital, 316 Martin Luther King JR Way, Tacoma, WA 98405, USA.<br /><searchLink fieldCode="AU" term="%22Glass+IA%22">Glass IA</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Hulick+PJ%22">Hulick PJ</searchLink>; Center for Medical Genetics, NorthShore University HealthSystem, 1000 Central Street, Suite 610, Evanston, IL 60201, USA.<br /><searchLink fieldCode="AU" term="%22Kline+AD%22">Kline AD</searchLink>; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA.<br /><searchLink fieldCode="AU" term="%22Krey+I%22">Krey I</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany; Swiss Epilepsy Center, Klinik Lengg, Bleulerstrasse 60, 8000 Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kumar+S%22">Kumar S</searchLink>; Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, Tamil Salai, Egmore, Chennai, Tamil Nadu 600008, India.<br /><searchLink fieldCode="AU" term="%22Lu+W%22">Lu W</searchLink>; Renal Section, Department of Medicine, Boston University Medical Center, 650 Albany Street, Boston, MA 02118, USA.<br /><searchLink fieldCode="AU" term="%22Marco+EJ%22">Marco EJ</searchLink>; Cortica Healthcare, 4000 Civic Center Drive, Ste 100, San Rafael, CA 94939, USA.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Mefford+HC%22">Mefford HC</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Povolotskaya+IS%22">Povolotskaya IS</searchLink>; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia.<br /><searchLink fieldCode="AU" term="%22Savatt+JM%22">Savatt JM</searchLink>; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA.<br /><searchLink fieldCode="AU" term="%22Shcherbakova+NV%22">Shcherbakova NV</searchLink>; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia.<br /><searchLink fieldCode="AU" term="%22Senguttuvan+P%22">Senguttuvan P</searchLink>; Department of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, No.2, Mc Nichols Rd, Chetpet, Chennai, Tamil Nadu 600031, India.<br /><searchLink fieldCode="AU" term="%22Squire+AE%22">Squire AE</searchLink>; Seattle Children's Hospital, Department of Genetic Medicine, 4800 Sand Point Way NE, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Stein+DR%22">Stein DR</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2401 Gillham Rd, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, 5000 Holmes St, Kansas City, MO 64110, USA.<br /><searchLink fieldCode="AU" term="%22Voinova+VY%22">Voinova VY</searchLink>; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia.<br /><searchLink fieldCode="AU" term="%22Somers+MJG%22">Somers MJG</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Ferguson+MA%22">Ferguson MA</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Traum+AZ%22">Traum AZ</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Daouk+GH%22">Daouk GH</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Daga+A%22">Daga A</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Rodig+NM%22">Rodig NM</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Terhal+PA%22">Terhal PA</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Eid+LA%22">Eid LA</searchLink>; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Tasic+V%22">Tasic V</searchLink>; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia.<br /><searchLink fieldCode="AU" term="%22Rasouly+HM%22">Rasouly HM</searchLink>; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Lim+TY%22">Lim TY</searchLink>; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Ahram+DF%22">Ahram DF</searchLink>; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Gharavi+AG%22">Gharavi AG</searchLink>; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Reutter+HM%22">Reutter HM</searchLink>; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany; Section of Neonatology and Pediatric Intensive Care, Clinic for Pediatrics, University Hospital Bonn, Adenauerallee 119, 53313 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22MacArthur+DG%22">MacArthur DG</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Lek+M%22">Lek M</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Laricchia+KM%22">Laricchia KM</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Lifton+RP%22">Lifton RP</searchLink>; The Rockefeller University, 1230 York Ave, New York, NY 10065, USA.<br /><searchLink fieldCode="AU" term="%22Xu+H%22">Xu H</searchLink>; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Mane+SM%22">Mane SM</searchLink>; Department of Genetics, Yale University School of Medicine, 333 Cedar St, New Haven, CT 06510, USA.<br /><searchLink fieldCode="AU" term="%22Sanna-Cherchi+S%22">Sanna-Cherchi S</searchLink>; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Sharrocks+AD%22">Sharrocks AD</searchLink>; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.<br /><searchLink fieldCode="AU" term="%22Raught+B%22">Raught B</searchLink>; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada.<br /><searchLink fieldCode="AU" term="%22Fisher+SE%22">Fisher SE</searchLink>; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bouchard+M%22">Bouchard M</searchLink>; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada.<br /><searchLink fieldCode="AU" term="%22Khokha+MK%22">Khokha MK</searchLink>; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.<br /><searchLink fieldCode="AU" term="%22Shril+S%22">Shril S</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 727-742. <i>Date of Electronic Publication: </i>2020 Sep 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ajhg.2020.08.013
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