| 5373 |
Pérez |
B |
9 |
39096554
| 2024 |
Centro de Diagn'ostico de Enfermedades Moleculares, Centro de Biolog'ia Molecular-SO UAM-CSIC, Universidad Aut'onoma de Madrid, Campus de Cantoblanco, 28049 Madrid, Spain; U746 - CIBER de Enfermedades Raras CIBERER , Madrid, Spain; Instituto de Inve |
| 5373 |
Morava |
E |
6 |
40737785
| 2025 |
Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, USA. |
| 5373 |
Matthijs |
G |
6 |
24424124
| 2014 |
Centre for Human Genetics, KU Leuven, Leuven, Belgium. |
| 5373 |
Grünewald |
S |
4 |
23430200
| 2013 |
NA |
| 5373 |
Freeze |
HH |
4 |
21949237
| 2011 |
NA |
| 5373 |
Serrano |
M |
3 |
41084237
| 2025 |
Pediatric Neurology Department, Hospital Sant Joan de D'eu, Barcelona, Spain. |
| 5373 |
Cubellis |
MV |
3 |
38458414
| 2024 |
Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078, Pozzuoli, Italy; Department of Biology, University of Napoli Federico II, Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126, Napoli, Italy; Stazione Zoologica Anto |
| 5373 |
Jaeken |
J |
3 |
29079546
| 2018 |
Center for Metabolic Diseases, KU Leuven, Leuven, Belgium. |
| 5373 |
Seta |
N |
3 |
15844218
| 2005 |
NA |
| 5373 |
Hu |
L |
2 |
39952535
| 2025 |
Department of Nephrology, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang Province, China, 310052; Centre for Computational Biology CCB , Duke-NUS Medical School, 8 College Road, Singapo |
| 5373 |
Andreotti |
G |
2 |
40169095
| 2025 |
Institute of Biomolecular Chemistry, National Research Council of Italy, Comprensorio Olivetti, via Campi Flegrei 34, 80078 Pozzuoli, Italy. |
| 5373 |
Barone |
R |
2 |
40335571
| 2025 |
Child Neuropsychiatry- Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 89, 95123, Catania, Italy. |
| 5373 |
Ãunap |
K |
2 |
40225925
| 2024 |
Genetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia. |
| 5373 |
Azevedo |
L |
2 |
34863624
| 2021 |
i3S- Instituto de Investigac~ao e Inovac~ao em Sa'ude, Universidade do Porto, Porto, Portugal; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal; FCUP-Department of Biology, Faculty of Sciences, University |
| 5373 |
Severini |
GM |
2 |
31115488
| 2019 |
Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', I-34137 Trieste, Italy. |
| 5373 |
Perlstein |
EO |
2 |
31636082
| 2019 |
Perlara PBC, 2625 Alcatraz Ave #435, Berkeley, CA 94705, USA |
| 5373 |
Allen |
KN |
2 |
29695157
| 2018 |
Department of Chemistry , Boston University , Boston , Massachusetts 02215 , United States. |
| 5373 |
de Lonlay |
P |
2 |
19357119
| 2009 |
NA |
| 5373 |
Marquardt |
T |
2 |
12905014
| 2003 |
NA |
| 5373 |
Martinsson |
T |
2 |
11058896
| 2000 |
NA |
| 5373 |
Winchester |
B |
2 |
11058895
| 2000 |
NA |
| 5373 |
Schwartz |
M |
2 |
10602363
| 1999 |
NA |
| 5373 |
Fajardo |
AA |
1 |
40858198
| 2026 |
Biochemistry and Molecular Biology Group, Facultad de Ciencias y Educaci'on, Universidad Distrital Francisco Jos'e de Caldas, 110311, Bogot'a, Colombia; Biochemistry and Molecular Biology Group, Facultad de Ciencias Matem'aticas y Naturales, Universi |
| 5373 |
Lin |
H |
1 |
41540812
| 2026 |
Division of Pediatric Gastroenterology, Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA. |
| 5373 |
Thiel |
C |
1 |
41052538
| 2026 |
Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg University, Heidelberg, Germany. |
| 5373 |
Edmondson |
AC |
1 |
39923392
| 2025 |
Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA. |
| 5373 |
Sousa |
SF |
1 |
40307862
| 2025 |
LAQV/REQUIMTE, BioSIM, Department of Biomedicine, Faculty of Medicine, University of Porto, Alameda Prof. Hern^ani Monteiro, Porto, Portugal. |
| 5373 |
HonzÃk |
T |
1 |
39633515
| 2025 |
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. |
| 5373 |
Monticelli |
M |
1 |
40572562
| 2025 |
Biology Department, University of Naples Federico II, Complesso Universitario Monte Sant'Angelo, Via Cinthia, 80126 Naples, Italy. |
| 5373 |
Videira |
PA |
1 |
41050669
| 2025 |
UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. |
| 5373 |
Stagi |
S |
1 |
40771275
| 2025 |
Health Sciences Department, University of Florence, Florence, Italy. |
| 5373 |
Yang |
Y |
1 |
40555085
| 2025 |
Children's Medical Center, Peking University First Hospital, Beijing 102600, China. |
| 5373 |
Kahrizi |
K |
1 |
40886090
| 2025 |
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. |
| 5373 |
Schultz |
MJ |
1 |
39216211
| 2024 |
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, 200 2 nd Street SW, Rochester, MN 55905, United States of America. |
| 5373 |
Ismaili |
MHA |
1 |
39053125
| 2024 |
Glycomine Inc., San Carlos, CA, USA. |
| 5373 |
Kozicz |
T |
1 |
38430517
| 2024 |
Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA; D |
| 5373 |
Jones |
KDJ |
1 |
36773065
| 2023 |
Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. |
| 5373 |
Witters |
P |
1 |
34828263
| 2021 |
Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, B3000 Leuven, Belgium. |
| 5373 |
Joshi |
CG |
1 |
34546508
| 2021 |
Department of Animal Biotechnology, College of Veterinary Sciences and Animal Husbandry, Anand Agricultural University, Anand, 388110, Gujarat, India. |
| 5373 |
Heidet |
L |
1 |
33580824
| 2021 |
Laboratory of Hereditary Kidney Diseases, Universit'e de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France. |
| 5373 |
Iancu |
D |
1 |
33811480
| 2021 |
Department Renal Medicine, University College London, London, UK. |
| 5373 |
Ogata |
T |
1 |
33583911
| 2021 |
Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan. |
| 5373 |
Seidah |
NG |
1 |
31391289
| 2020 |
Department of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, Canada |
| 5373 |
Xiao |
H |
1 |
31902100
| 2020 |
Institute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410013, China. |
| 5373 |
Maftei |
R |
1 |
32630370
| 2020 |
Origyn Fertility Center, Palace Street, no 3C, 70032 Iasi, Romania. |
| 5373 |
Albiach Mesado |
V |
1 |
32841164
| 2020 |
Pediatric Endocrinology, Hospital Universitari i Politecnic La Fe, Valencia, Spain. |
| 5373 |
Tokatlı |
A |
1 |
31981409
| 2020 |
Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Hacettepe University, Ankara, Turkey. |
| 5373 |
Luo |
X |
1 |
30950015
| 2019 |
NA |
| 5373 |
Gu |
H |
1 |
31727010
| 2019 |
Department of Human Anatomy, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, People's Republic of China. |
| 5373 |
Schlondorff |
JS |
1 |
31266804
| 2019 |
Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215 |
| 5373 |
Rajkovic |
A |
1 |
30406445
| 2019 |
Department of Pathology, University of California, San Francisco, CA, 94143-0794, USA. |
| 5373 |
Hamzeh |
AR |
1 |
28940310
| 2018 |
Centre for Arab Genomic Studies, Dubai, UAE. |
| 5373 |
Luo |
XY |
1 |
29361989
| 2018 |
Department of Paediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, 510120, People's Republic of China. |
| 5373 |
De Lonlay |
P |
1 |
28954837
| 2017 |
NA |
| 5373 |
Carafoli |
E |
1 |
28807751
| 2017 |
Venetian Institute of Molecular Medicine, Padova, Italy. |
| 5373 |
Bockenhauer |
D |
1 |
28373276
| 2017 |
University College London Centre for Nephrology, University College London, London, United Kingdom. |
| 5373 |
Zhang |
Z |
1 |
26423071
| 2016 |
College of Information, North China University of Technology, Beijing, 100043, China. |
| 5373 |
Venkatlakshmi |
A |
1 |
26365158
| 2016 |
Department of Neonatology, Rainbow Children's Hospital, Hyderabad, Andhra Pradesh, 500 034, India. |
| 5373 |
Hernández-Caselles |
T |
1 |
27415628
| 2016 |
Departamento de Bioqu'imica, Biolog'ia Molecular B e Inmunolog'ia, Facultad de Medicina, IMIB-University of Murcia, Murcia, Spain. |
| 5373 |
Jin |
S |
1 |
27053713
| 2016 |
Agios Pharmaceuticals, Inc., Cambridge, MA 02139-4169, USA |
| 5373 |
He |
M |
1 |
26430078
| 2016 |
Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory of Medicine, University of Pennsylvania, Philadelphia, PA. |
| 5373 |
Dai |
L |
1 |
26887550
| 2015 |
NA |
| 5373 |
Park |
HD |
1 |
25681648
| 2015 |
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. |
| 5373 |
Fiumara |
A |
1 |
25355454
| 2015 |
NA |
| 5373 |
Pérez-Dueñas |
B |
1 |
26502900
| 2015 |
Neuropediatric Department, Hospital Sant Joan de D'eu, U-703 Centre for Biomedical Research on Rare Diseases CIBER-ER , Instituto de Salud Carlos III, Passeig Sant Joan de D'eu, 2. 08950 Esplugues, Barcelona, Spain. |
| 5373 |
Gimelli |
G |
1 |
25596524
| 2015 |
Laboratorio di Citogenetica, Istituto Giannina Gaslini, Genova, Italy. |
| 5373 |
Héron |
D |
1 |
25497157
| 2014 |
NA |
| 5373 |
Yang |
Z |
1 |
25173107
| 2014 |
1] Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, China. [2] School of Medicine, University of Electronic Sci |
| 5373 |
Pennesi |
ME |
1 |
24493206
| 2014 |
NA |
| 5373 |
Proença |
E |
1 |
24739649
| 2014 |
NA |
| 5373 |
Nair |
MP |
1 |
25613138
| 2014 |
NA |
| 5373 |
Lozano |
ML |
1 |
24139637
| 2013 |
NA |
| 5373 |
Gruszewska |
E |
1 |
23730680
| 2013 |
NA |
| 5373 |
Lotze |
TE |
1 |
23045520
| 2012 |
NA |
| 5373 |
Barnett |
CP |
1 |
22374380
| 2012 |
NA |
| 5373 |
Demeret |
C |
1 |
22761572
| 2012 |
NA |
| 5373 |
Foulquier |
F |
1 |
21315133
| 2011 |
NA |
| 5373 |
Dahl |
N |
1 |
20199520
| 2011 |
NA |
| 5373 |
Attié-Bitach |
T |
1 |
20638314
| 2010 |
NA |
| 5373 |
Rohr |
A |
1 |
18835116
| 2009 |
NA |
| 5373 |
Asma |
O |
1 |
19165618
| 2009 |
NA |
| 5373 |
Christodoulou |
J |
1 |
19396570
| 2009 |
NA |
| 5373 |
Zappia |
M |
1 |
18629883
| 2008 |
NA |
| 5373 |
Savarirayan |
R |
1 |
18203160
| 2008 |
NA |
| 5373 |
Appleton |
D |
1 |
17451957
| 2007 |
NA |
| 5373 |
Lefeber |
DJ |
1 |
17694350
| 2007 |
NA |
| 5373 |
Wevers |
RA |
1 |
17158594
| 2007 |
NA |
| 5373 |
Perrotti |
N |
1 |
15342340
| 2005 |
NA |
| 5373 |
Ohno |
K |
1 |
13129599
| 2003 |
NA |
| 5373 |
Krägeloh-Mann |
I |
1 |
11935250
| 2002 |
NA |
| 5373 |
Krasnewich |
DM |
1 |
11891694
| 2002 |
NA |
| 5373 |
Kuroda |
Y |
1 |
10066032
| 1999 |
NA |
| 5373 |
Cassiman |
JJ |
1 |
9070917
| 1997 |
NA |
| 5373 |
Van Schaftingen |
E |
1 |
9140401
| 1997 |
NA |
| 5373 |
Wahlström |
J |
1 |
7874123
| 1994 |
NA |