| 5053 |
Woo |
SL |
16 |
3856322
| 1985 |
NA |
| 5053 |
Ugarte |
M |
9 |
19036622
| 2009 |
NA |
| 5053 |
Güttler |
F |
9 |
11461196
| 2001 |
NA |
| 5053 |
Flatmark |
T |
7 |
20937381
| 2011 |
NA |
| 5053 |
Scriver |
CR |
7 |
9792411
| 1998 |
NA |
| 5053 |
MartÃnez |
A |
6 |
15917086
| 2005 |
NA |
| 5053 |
Horst |
J |
6 |
2606484
| 1989 |
NA |
| 5053 |
Kong |
X |
5 |
38818554
| 2024 |
NA |
| 5053 |
Blau |
N |
5 |
30037505
| 2018 |
Center for Child and Adolescent Medicine, and Dietmar-Hopp Metabolic Center, University of Heidelberg, Heidelberg, Germany. |
| 5053 |
Cotton |
RG |
5 |
8097261
| 1993 |
NA |
| 5053 |
Su |
TS |
4 |
24401910
| 2014 |
1] Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan [2] Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan. |
| 5053 |
Hough |
E |
4 |
14568534
| 2003 |
NA |
| 5053 |
Stevens |
RC |
4 |
12096915
| 2002 |
NA |
| 5053 |
Romano |
V |
4 |
11708866
| 2001 |
NA |
| 5053 |
Ma |
X |
3 |
37237386
| 2023 |
National Research Institute for Health and Family Planning, National Human Genetic Resources Center, Beijing, China. |
| 5053 |
Wang |
Y |
3 |
36607699
| 2023 |
Department of Clinical Laboratory, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China. |
| 5053 |
Ramakrishna |
S |
3 |
35987969
| 2022 |
Graduate School of Biomedical Science and Engineering, Hanyang University, Seoul, South Korea. |
| 5053 |
Pietrzyk |
JJ |
3 |
24350308
| 2013 |
Chair of Pediatrics, Jagiellonian University, Krakow, Poland. |
| 5053 |
Carvalho |
MR |
3 |
20082265
| 2010 |
NA |
| 5053 |
Salvatore |
F |
3 |
19292873
| 2009 |
NA |
| 5053 |
Shiloh |
Y |
3 |
8487271
| 1993 |
NA |
| 5053 |
Munnich |
A |
3 |
2564729
| 1989 |
NA |
| 5053 |
Moradi |
K |
2 |
35339094
| 2022 |
Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran. |
| 5053 |
Gersting |
SW |
2 |
29514280
| 2018 |
University Children's Research, Kinder-UKE. |
| 5053 |
Thöny |
B |
2 |
29174366
| 2018 |
Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland. |
| 5053 |
Yu |
WZ |
2 |
26575882
| 2015 |
NA |
| 5053 |
Gu |
X |
2 |
23932990
| 2013 |
NA |
| 5053 |
Morozov |
IV |
2 |
23074961
| 2012 |
NA |
| 5053 |
Andresen |
BS |
2 |
22698810
| 2012 |
NA |
| 5053 |
Muntau |
AC |
2 |
20667834
| 2010 |
NA |
| 5053 |
Martinez |
A |
2 |
18937047
| 2009 |
NA |
| 5053 |
Haines |
JL |
2 |
19674121
| 2009 |
NA |
| 5053 |
Liu |
XW |
2 |
19199246
| 2009 |
NA |
| 5053 |
Kucinskas |
V |
2 |
19062537
| 2008 |
NA |
| 5053 |
Leandro |
P |
2 |
18769885
| 2008 |
NA |
| 5053 |
Anikster |
Y |
2 |
18299955
| 2008 |
Metabolic Disease Unit, Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel. |
| 5053 |
Froster |
UG |
2 |
16765994
| 2006 |
NA |
| 5053 |
Gu |
XF |
2 |
16086286
| 2005 |
NA |
| 5053 |
Croke |
DT |
2 |
12655548
| 2003 |
NA |
| 5053 |
Trefz |
FK |
2 |
11855940
| 2002 |
NA |
| 5053 |
Apold |
J |
2 |
7860062
| 1995 |
NA |
| 5053 |
Rey |
J |
2 |
8098245
| 1993 |
NA |
| 5053 |
Lichter-Konecki |
U |
2 |
1679030
| 1991 |
NA |
| 5053 |
Lyonnet |
S |
2 |
2035532
| 1991 |
NA |
| 5053 |
Boman |
H |
2 |
1978553
| 1990 |
NA |
| 5053 |
Valle |
D |
2 |
2615649
| 1989 |
NA |
| 5053 |
Zinchenko |
RA |
1 |
38731816
| 2024 |
Research Centre for Medical Genetics, 115522 Moscow, Russia. |
| 5053 |
Chen |
GR |
1 |
38436318
| 2024 |
NA |
| 5053 |
Ãıkı |
K |
1 |
38706300
| 2024 |
Division of Child Nutrition and Metabolism, Department of Pediatrics, Van Research and Training Hospital, Van, Turkiye. |
| 5053 |
Jiang |
T |
1 |
38448014
| 2024 |
NA |
| 5053 |
Pan |
L |
1 |
37553307
| 2023 |
Department of Prenatal Diagnosis Center, General Hospital of Ningxia Medical University, 750004 Yinchuan, Ningxia, China. |
| 5053 |
AlSayed |
M |
1 |
37257178
| 2023 |
Department of Medical Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. |
| 5053 |
Xiao |
B |
1 |
36849017
| 2023 |
Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Institute for Pediatric Research, Shanghai, China. |
| 5053 |
Hashemi-Soteh |
SMB |
1 |
35023679
| 2022 |
NA |
| 5053 |
Xu |
L |
1 |
36104584
| 2022 |
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China. |
| 5053 |
Birgul Iyison |
N |
1 |
33970801
| 2022 |
Faculty of Arts and Sciences, Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. |
| 5053 |
Wang |
G |
1 |
35952926
| 2022 |
Department of Surgery, Quanzhou Maternity and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province 362000, China. |
| 5053 |
Akin Duman |
T |
1 |
35405047
| 2022 |
Department of Medical Genetics, Istanbul Haseki Training and Research Hospital, Istanbul, Turkey. |
| 5053 |
Ãilingir |
O |
1 |
35355500
| 2022 |
Eskisehir Osmangazi University Faculty of Medicine, Meselik Campuse, Odunpazari, Turkey. |
| 5053 |
Jia |
Y |
1 |
34704413
| 2021 |
3. Medical Genetics and Prenatal Diagnosis of Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu 610041, China. |
| 5053 |
van Spronsen |
FJ |
1 |
33766497
| 2021 |
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, the Netherlands. |
| 5053 |
Yang |
L |
1 |
34353949
| 2021 |
Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. |
| 5053 |
Islam |
SM |
1 |
33491267
| 2021 |
Department of Chemistry, University of Illinois at Chicago, Chicago, Illinois, USA. |
| 5053 |
Svasti |
J |
1 |
33677757
| 2021 |
Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand. |
| 5053 |
Almeida |
AJ |
1 |
34360752
| 2021 |
Research Institute for Medicines iMed.ULisboa , Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal. |
| 5053 |
Li |
X |
1 |
32893076
| 2021 |
Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China. |
| 5053 |
Fernández-Lainez |
C |
1 |
34828281
| 2021 |
Laboratorio de Errores Innatos del Metabolismo y Tamiz, Subdirecci'on de Medicina Experimental, Instituto Nacional de Pediatr'ia, Secretar'ia de Salud, Ciudad de Mexico 04530, Mexico. |
| 5053 |
Namour |
F |
1 |
31923802
| 2020 |
University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure NGERE , Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabo |
| 5053 |
Fu |
C |
1 |
33161754
| 2020 |
Hainan Women and Children's Medical Center, Hainan Newborn Screening Center, Haikou, China. |
| 5053 |
Harding |
CO |
1 |
33051130
| 2020 |
Department of Medical and Molecular Genetics, Oregon Health & Science University, Portland, USA. |
| 5053 |
Nicholls |
RD |
1 |
33055427
| 2020 |
Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh School of Medicine, and Universityof Pittsburgh Medical Center UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA. |
| 5053 |
Galera |
MF |
1 |
32074228
| 2020 |
Universidade Federal de Mato Grosso, Cuiab'a, MT, Brazil. |
| 5053 |
Sadr-Nabavi |
A |
1 |
32069237
| 2020 |
Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Azadi Square, Mashhad, Iran. |
| 5053 |
Kvlividze |
O |
1 |
33395657
| 2020 |
2School of Medicine, New Vision University; 5Georgian Foundation for Genetic and Rare Diseases GeRaD , Tbilisi, Georgia. |
| 5053 |
Fu |
Q |
1 |
31703126
| 2019 |
NA |
| 5053 |
Wang |
F |
1 |
31703125
| 2019 |
NA |
| 5053 |
Yu |
Y |
1 |
31102715
| 2019 |
Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. |
| 5053 |
Wang |
LL |
1 |
31382905
| 2019 |
Mathematical Engineering Academy Of Chinese Medicine, Guangzhou University of Chinese Medicine, no. 232, Waihuandong Road, Guangzhou Higher Education Mega Center, Guangzhou, 510006, People's Republic of China. |
| 5053 |
Shu |
Q |
1 |
30459323
| 2018 |
Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310058, China. |
| 5053 |
Wang |
P |
1 |
29390883
| 2018 |
a The Third Affiliated Hospital of Zhengzhou University , Zhengzhou , China. |
| 5053 |
Voelz |
VA |
1 |
30287685
| 2018 |
From the Department of Chemistry, Temple University, Philadelphia, Pennsylvania 19122, |
| 5053 |
Zeinali |
S |
1 |
30159852
| 2018 |
Kawsar Human Genetics Research Center, 41 Majlesi St., Vali Asr St., Tehran, 1595645513, Iran. |
| 5053 |
Desviat |
LR |
1 |
29684050
| 2018 |
Centro de Biolog'ia Molecular Severo Ochoa UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Aut'onoma, Madrid, Spain. |
| 5053 |
Zhou |
BC |
1 |
29413232
| 2018 |
Department of Medical Laboratory, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu, China. |
| 5053 |
Keramatipour |
M |
1 |
28676969
| 2017 |
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. |
| 5053 |
Lee |
DH |
1 |
29032371
| 2017 |
. |
| 5053 |
Greber-Platzer |
S |
1 |
28389235
| 2017 |
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Wahringer Gurtel 18-20, Vienna, Austria. |
| 5053 |
Zhang |
L |
1 |
28604955
| 2017 |
NA |
| 5053 |
Hall |
PL |
1 |
27308838
| 2017 |
Department of Human Genetics, School of Medicine, Emory University, Atlanta, Georgia, USA. |
| 5053 |
Soltysova |
A |
1 |
28653649
| 2017 |
NA |
| 5053 |
Stojiljkovic |
M |
1 |
27447460
| 2017 |
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11010, Belgrade, Serbia. |
| 5053 |
Møller |
LB |
1 |
26542770
| 2016 |
Department of Science, Systems and Models NSM , Roskilde University, DK 4000 Roskilde, Denmark. |
| 5053 |
Yue |
WW |
1 |
27049649
| 2016 |
Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, UK OX3 7DQ. |
| 5053 |
Moriuchi |
H |
1 |
27173423
| 2016 |
Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan. |
| 5053 |
Kaabachi |
N |
1 |
26759449
| 2016 |
Research Laboratory LR99ES11, Department of Biochemistry, Rabta Hospital and Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia. |
| 5053 |
Zhu |
B |
1 |
25863075
| 2015 |
NA |
| 5053 |
Fajkusová |
L |
1 |
25750018
| 2015 |
NA |
| 5053 |
Sultana |
T |
1 |
25990862
| 2015 |
Genomics and Proteomics Core Laboratories, University of Pittsburgh, 3343 Forbes Avenue, Pittsburgh, PA 15260, United States. |
| 5053 |
Alcántara-Ortigoza |
MA |
1 |
24941924
| 2015 |
Laboratorio de Biolog'ia Molecular, Departamento de Gen'etica Humana, Instituto Nacional de Pediatr'ia, Secretar'ia de Salud, M'exico. |
| 5053 |
Ghazavi |
A |
1 |
26025954
| 2015 |
Neurophysiology Research Center, Urmia University of Medical Sciences, Urmia, Iran. |
| 5053 |
Shi |
HR |
1 |
26600521
| 2015 |
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China. |
| 5053 |
Zhang |
H |
1 |
25863076
| 2015 |
NA |
| 5053 |
Jiang |
XY |
1 |
25894915
| 2015 |
Department of Children Health Care, Wuxi Maternal and Child Health Hospital, No.48 Huaishu Alley, Wuxi, Jiangsu Province, China. |
| 5053 |
He |
J |
1 |
24510568
| 2014 |
NA |
| 5053 |
Kadandale |
JS |
1 |
24130151
| 2014 |
NA |
| 5053 |
Miida |
T |
1 |
24607329
| 2014 |
Department of Clinical and Laboratory Medicine, Juntendo University, Tokyo, Japan. |
| 5053 |
Yu |
W |
1 |
24510552
| 2014 |
NA |
| 5053 |
JagodziÅski |
PP |
1 |
24606907
| 2014 |
Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland. |
| 5053 |
Huang |
S |
1 |
25449068
| 2014 |
NA |
| 5053 |
Sokal |
E |
1 |
24825084
| 2014 |
NA |
| 5053 |
Ghadiri |
K |
1 |
24048906
| 2014 |
NA |
| 5053 |
Dunbrack |
RL |
1 |
23296088
| 2013 |
NA |
| 5053 |
Usta |
J |
1 |
23220018
| 2013 |
NA |
| 5053 |
Xu |
ZF |
1 |
24078561
| 2013 |
NA |
| 5053 |
Plecko |
B |
1 |
22526846
| 2013 |
NA |
| 5053 |
Al-Achkar |
W |
1 |
23856132
| 2013 |
NA |
| 5053 |
Kunugi |
H |
1 |
23898865
| 2013 |
NA |
| 5053 |
Mojarad |
M |
1 |
22763404
| 2012 |
NA |
| 5053 |
Battelino |
T |
1 |
22513348
| 2012 |
NA |
| 5053 |
Sefiani |
A |
1 |
22808937
| 2012 |
NA |
| 5053 |
Zhang |
X |
1 |
22333022
| 2011 |
NA |
| 5053 |
Zhou |
YA |
1 |
21811977
| 2011 |
NA |
| 5053 |
Li |
CM |
1 |
21154324
| 2010 |
NA |
| 5053 |
Shiva |
S |
1 |
20187763
| 2010 |
NA |
| 5053 |
Fu |
B |
1 |
20140859
| 2010 |
NA |
| 5053 |
Kantheti |
P |
1 |
20188615
| 2010 |
NA |
| 5053 |
Chabraoui |
L |
1 |
19786003
| 2010 |
NA |
| 5053 |
Pavlovic |
S |
1 |
19629656
| 2009 |
NA |
| 5053 |
Kendler |
KS |
1 |
19268543
| 2009 |
NA |
| 5053 |
Frauendienst-Egger |
G |
1 |
18956252
| 2009 |
NA |
| 5053 |
Naylor |
EW |
1 |
19444284
| 2009 |
NA |
| 5053 |
Livshyts' |
LA |
1 |
19938643
| 2009 |
NA |
| 5053 |
Nimgaonkar |
VL |
1 |
18937293
| 2009 |
NA |
| 5053 |
Huang |
SZ |
1 |
20017307
| 2009 |
NA |
| 5053 |
Ki |
CS |
1 |
18985011
| 2008 |
NA |
| 5053 |
Wang |
H |
1 |
18247293
| 2008 |
NA |
| 5053 |
Gad |
YZ |
1 |
18447256
| 2008 |
NA |
| 5053 |
Imai |
T |
1 |
18374504
| 2008 |
NA |
| 5053 |
Qiu |
L |
1 |
19099685
| 2008 |
NA |
| 5053 |
Seifati |
SM |
1 |
19161120
| 2008 |
NA |
| 5053 |
Dezateux |
C |
1 |
18184144
| 2008 |
NA |
| 5053 |
Kusnutdinova |
EK |
1 |
17633563
| 2007 |
NA |
| 5053 |
Morton |
H |
1 |
17630668
| 2007 |
NA |
| 5053 |
Matalon |
R |
1 |
17627389
| 2007 |
NA |
| 5053 |
Levy |
HL |
1 |
17502162
| 2007 |
NA |
| 5053 |
Suckow |
RF |
1 |
16402341
| 2006 |
NA |
| 5053 |
Singh |
SM |
1 |
16917891
| 2006 |
NA |
| 5053 |
Schallreuter |
KU |
1 |
16935936
| 2006 |
NA |
| 5053 |
Zheng |
XY |
1 |
16256386
| 2005 |
NA |
| 5053 |
Zhang |
T |
1 |
15730960
| 2005 |
NA |
| 5053 |
Haavik |
J |
1 |
15135070
| 2004 |
NA |
| 5053 |
Xu |
J |
1 |
15300621
| 2004 |
NA |
| 5053 |
Wood |
JM |
1 |
15313177
| 2004 |
NA |
| 5053 |
Waters |
PJ |
1 |
12655545
| 2003 |
deBelle Laboratory for Biochemical Genetics, Montreal Children's Hospital, Montreal, Quebec, Canada. |
| 5053 |
Tanizawa |
T |
1 |
12777691
| 2003 |
NA |
| 5053 |
Saraiva Pereira |
ML |
1 |
12765842
| 2003 |
NA |
| 5053 |
Craddock |
N |
1 |
12782966
| 2003 |
NA |
| 5053 |
Ross |
LF |
1 |
12833401
| 2003 |
NA |
| 5053 |
Baric |
I |
1 |
12655552
| 2003 |
NA |
| 5053 |
Koch |
R |
1 |
14654659
| 2003 |
NA |
| 5053 |
Pérez |
B |
1 |
12655546
| 2003 |
NA |
| 5053 |
Giovannini |
M |
1 |
12200907
| 2002 |
NA |
| 5053 |
Richardson |
MA |
1 |
12210276
| 2002 |
NA |
| 5053 |
Zago |
M |
1 |
11180595
| 2001 |
NA |
| 5053 |
Cabalska |
B |
1 |
11678552
| 2001 |
NA |
| 5053 |
Garcia-Heras |
J |
1 |
11385716
| 2001 |
NA |
| 5053 |
Ding |
Z |
1 |
11172645
| 2001 |
NA |
| 5053 |
Parniak |
MA |
1 |
11461190
| 2001 |
NA |
| 5053 |
Kulozik |
AE |
1 |
10679941
| 2000 |
NA |
| 5053 |
Bassett |
AS |
1 |
10784452
| 2000 |
NA |
| 5053 |
Hoffmann |
GF |
1 |
10472529
| 1999 |
NA |
| 5053 |
Popescu |
A |
1 |
9792407
| 1998 |
NA |
| 5053 |
Milà |
M |
1 |
10200057
| 1998 |
NA |
| 5053 |
Chiba |
S |
1 |
9852673
| 1998 |
NA |
| 5053 |
Charikova |
EV |
1 |
8825461
| 1996 |
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow. |
| 5053 |
Oksenberg |
JR |
1 |
8696344
| 1996 |
NA |
| 5053 |
Lechner |
MC |
1 |
7581408
| 1995 |
NA |
| 5053 |
Nevin |
NC |
1 |
7981714
| 1994 |
NA |
| 5053 |
Matsuoka |
A |
1 |
8116675
| 1994 |
NA |
| 5053 |
Schreiner |
R |
1 |
8068076
| 1993 |
NA |
| 5053 |
Melle |
D |
1 |
8370573
| 1993 |
NA |
| 5053 |
Le Marec |
B |
1 |
1609797
| 1992 |
NA |
| 5053 |
Narisawa |
K |
1 |
1360590
| 1992 |
NA |
| 5053 |
Rozen |
R |
1 |
1301201
| 1992 |
NA |
| 5053 |
Oura |
T |
1 |
2006152
| 1991 |
NA |
| 5053 |
Gitzelmann |
R |
1 |
1915502
| 1991 |
NA |
| 5053 |
Slomski |
R |
1 |
1671768
| 1991 |
NA |
| 5053 |
Laberge |
C |
1 |
1971147
| 1990 |
NA |
| 5053 |
Hagenfeldt |
L |
1 |
1975559
| 1990 |
NA |
| 5053 |
Morgan |
FJ |
1 |
2461704
| 1988 |
NA |
| 5053 |
Craig |
I |
1 |
2872999
| 1986 |
NA |