第一单位:
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
作者:
Felix,Marbach [1]
;
Georgi,Stoyanov [2]
;
Florian,Erger [3]
;
Constantine A,Stratakis [4]
;
Nikolaos,Settas [4]
;
Edra,London [4]
;
Jill A,Rosenfeld [5]
;
Erin,Torti [6]
;
Chad,Haldeman-Englert [7]
;
Evgenia,Sklirou [8]
;
Elena,Kessler [8]
;
Sophia,Ceulemans [9]
;
Stanley F,Nelson [10]
;
Julian A,Martinez-Agosto [10]
;
Christina G S,Palmer [11]
;
Rebecca H,Signer [10]
;
Undiagnosed Diseases Network [12]
;
Marisa V,Andrews [12]
;
Dorothy K,Grange [13]
;
Rebecca,Willaert [6]
;
Richard,Person [6]
;
Aida,Telegrafi [1]
;
Aaron,Sievers [1]
;
Magdalena,Laugsch [1]
;
Susanne,Theiß [14]
;
YuZhu,Cheng [15]
;
Olivier,Lichtarge [15]
;
Panagiotis,Katsonis [16]
;
Amber,Stocco [17]
;
Christian P,Schaaf
作者单位:
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
[1]
Faculty of Medicine, University of Cologne, Cologne, Germany.
[2]
Faculty of Medicine, University of Cologne, Cologne, Germany.;Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
[3]
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
[4]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Baylor Genetics Laboratory, Houston, TX, USA.
[5]
GeneDX, Gaithersburg, MD, USA.
[6]
Mission Fullerton Genetics Center, Asheville, NC, USA.
[7]
Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
[8]
Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA.
[9]
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
[10]
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.;Department of Psychiatry & Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.;Institute for Society and Genetics, UCLA, Los Angeles, CA, USA.
[11]
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.
[12]
Baylor Genetics Laboratory, Houston, TX, USA.
[13]
Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, International Centre for Life, Times Square, Newcastle upon Tyne, UK.
[14]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[15]
INTEGRIS Pediatric Neurology, Oklahoma City, OK, USA.
[16]
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. Christian.Schaaf@med.uni-heidelberg.de.;Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. Christian.Schaaf@med.uni-heidelberg.de.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Christian.Schaaf@med.uni-heidelberg.de.
[17]
DOI
10.1038/s41436-021-01152-7
PMID
33833410
发布时间
2024-02-22