1.
Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway
by Hart, Claire E
American journal of human genetics, 2007, Vol.80 (5), p.931-937

2.
Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice
by Ruel, Jérôme
American journal of human genetics, 2008, Vol.83 (2), p.278-292

3.
Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency
by Banka, Siddharth
American journal of human genetics, 2011, Vol.88 (2), p.216-225

4.
DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria
by Danhauser, Katharina
American journal of human genetics, 2012, Vol.91 (6), p.1082-1087

5.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
by Pierce, Sarah B
American journal of human genetics, 2013, Vol.92 (4), p.614-620

6.
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
by Porath, Binu
American journal of human genetics, 2016, Vol.98 (6), p.1193-1207

7.
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
by Christiansen, Helena E
American journal of human genetics, 2010, Vol.86 (3), p.389-398

8.
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
by Hartig, Monika B
American journal of human genetics, 2011, Vol.89 (4), p.543-550

9.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
by Kishita, Yoshihito
American journal of human genetics, 2015, Vol.97 (5), p.761-768

10.
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
by Riley, Lisa G
American journal of human genetics, 2010, Vol.87 (1), p.52-59

11.
PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
by Krawitz, Peter M
American journal of human genetics, 2013, Vol.92 (4), p.584-589

12.
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
by van den Boogaard, Marlinde L
American journal of human genetics, 2016, Vol.98 (5), p.1020-1029

13.
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
by Yu, Hung-Chun
American journal of human genetics, 2013, Vol.93 (3), p.506-514

14.
Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations
by Oda, Hirotsugu
American journal of human genetics, 2014, Vol.95 (1), p.121-125

15.
Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54
by Green, Peter
American journal of human genetics, 2010, Vol.86 (3), p.485-489

16.
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A ( RANK) Mutations
by Guerrini, Matteo M
American journal of human genetics, 2008, Vol.83 (1), p.64-76

17.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
by Chelban, Viorica
American journal of human genetics, 2017, Vol.100 (6), p.969-977

18.
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
by Bem, Danai
American journal of human genetics, 2011, Vol.88 (4), p.499-507

19.
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
by Nakamura, Kazuyuki
American journal of human genetics, 2013, Vol.93 (3), p.496-505

20.
A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2
by Amr, Sami
American journal of human genetics, 2007, Vol.81 (4), p.673-683
