换一批
第一作者：
P J,van der Sluijs
第一单位：
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
作者：
P J,van der Sluijs [1]
;
M,Gösgens [1]
;
A J M,Dingemans [2]
;
P,Striano [3]
;
A,Riva [4]
;
C,Mignot [5]
;
A,Faudet [6]
;
G,Vasileiou [7]
;
M,Walther [8]
;
S A,Schrier Vergano [9]
;
M,Alders [10]
;
F S,Alkuraya [11]
;
I,Alorainy [12]
;
H S,Alsaif [13]
;
B,Anderlid [14]
;
I,Bache [15]
;
I,van Beek [10]
;
M,Blanluet [16]
;
B W,van Bon [17]
;
T,Brunet [18]
;
H,Brunner [2]
;
M L,Carriero [19]
;
P,Charles [5]
;
N,Chatron [20]
;
E,Coccia [21]
;
C,Dubourg [22]
;
R K,Earl [23]
;
E E,Eichler [24]
;
L,Faivre [25]
;
N,Foulds [26]
;
C,Graziano [27]
;
A M,Guerrot [28]
;
M O,Hashem [29]
;
S,Heide [6]
;
D,Heron [6]
;
S E,Hickey [30]
;
S M J,Hopman [31]
;
A,Kattentidt-Mouravieva [32]
;
J,Kerkhof [33]
;
J S,Klein Wassink-Ruiter [34]
;
E C,Kurtz-Nelson [35]
;
K,Kušíková [36]
;
M,Kvarnung [14]
;
F,Lecoquierre [28]
;
G S,Leszinski [37]
;
L,Loberti [38]
;
P L,Magoulas [39]
;
F,Mari [19]
;
I,Maystadt [40]
;
G,Merla [41]
;
J M,Milunsky [42]
;
S,Moortgat [40]
;
G,Nicolas [28]
;
M O ',Leary [43]
;
S,Odent [44]
;
J R,Ozmore [45]
;
K,Parbhoo [46]
;
R,Pfundt [2]
;
M,Piccione [47]
;
A M,Pinto [19]
;
B,Popp [48]
;
A,Putoux [49]
;
H L,Rehm [43]
;
A,Reis [7]
;
A,Renieri [38]
;
J A,Rosenfeld [50]
;
M,Rossi [49]
;
E,Salzano [51]
;
P,Saugier-Veber [28]
;
M,Seri [21]
;
G,Severi [21]
;
F M,Sonmez [52]
;
G,Strobl-Wildemann [53]
;
K E,Stuurman [54]
;
E,Uctepe [55]
;
H,Van Esch [56]
;
G,Vitetta [21]
;
B B A,de Vries [2]
;
D,Wahl [57]
;
T,Wang [58]
;
P,Zacher [59]
;
K R,Heitink [60]
;
F G,Ropers [61]
;
D,Steenbeek [62]
;
T,Rybak [63]
;
G W E,Santen [1]
作者单位：
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
[1]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
[2]
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
[3]
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.;IRCCS Istituto Giannina Gaslini, Genova, Italy.
[4]
Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.
[5]
Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.
[6]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.;Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.
[7]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
[8]
Children's Hospital of The King's Daughters, Norfolk, VA.;Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.
[9]
Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
[10]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.;Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
[11]
Department of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
[12]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.;Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
[13]
Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
[14]
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
[15]
Service de Génétique Oncologique, Institut Curie, Paris, France.
[16]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
[17]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.;Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, D-80337 Munich, Germany.
[18]
Medical Genetics, University of Siena, Siena, Italy.
[19]
Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.;Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.
[20]
Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.
[21]
Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France.;Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.
[22]
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.
[23]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.;Howard Hughes Medical Institute, University of Washington, School of Medicine, Seattle, WA.
[24]
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France.;Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.
[25]
Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom.
[26]
Medical Genetics Unit, AUSL Romagna, Cesena, Italy.
[27]
Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.
[28]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[29]
Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.;Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.
[30]
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
[31]
Stichting Zuidwester, Middelharnis, the Netherlands.
[32]
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
[33]
Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands.
[34]
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.;Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.
[35]
Department of Pediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Bratislava, Slovakia.
[36]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
[37]
Medical Genetics, University of Siena, Siena, Italy.;Department of Medical Biotechnologies, Med Biotech Hub and Competence Centre, University of Siena, Siena, Italy.
[38]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
[39]
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
[40]
Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy.;Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
[41]
Center for Human Genetics Inc, Cambridge, MA.
[42]
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.
[43]
Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.;Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, RENNES, France.
[44]
Medical Genetics, Dartmouth Hitchcock Medical Center, Lebanon, NH.
[45]
Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.;The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH.
[46]
Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.;Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
[47]
Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany.
[48]
Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
[49]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.;Baylor Genetics Laboratories, Houston, TX.
[50]
Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.
[51]
Department of Child Neurology, Karadeniz Technical University Faculty of Medicine, Retired Lecturer, Trabzon, Turkey.
[52]
MVZ Humangenetik Ulm, Ulm, Germany.
[53]
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
[54]
Acıbadem Labmed Ankara Tissue Typing Laboratory, Ankara, Turkey.
[55]
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
[56]
Department of Clinical Genetics, MVZ Martinsried, Munich, Germany.
[57]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.;Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.;Neuroscience Research Institute, Peking University Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.;Autism Research Center, Peking University Health Science Center, Beijing, China.
[58]
Epilepsy Center Kleinwachau, Radeberg, Germany.
[59]
Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, the Netherlands.
[60]
Willem-Alexander Children's Hospital, department of Pediatrics, Leiden University Medical Center, the Netherlands.
[61]
Department of Rehabilitation Medicine, Maastricht University Medical Center / Adelante Rehabilitation, Maastricht, The Netherlands.
[62]
's Heeren Loo Noordwijk, Noordwijk, the Netherlands.
[63]
DOI
10.1016/j.gimo.2024.101873
PMID
39669611
发布时间
2026-03-16
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Genetics in medicine open
Genetics in medicine open
2024年2卷
101873页
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