W. Gahl

发表

In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.

D. Goldstein, S. Kaler, E. Popek, 2012, Molecular genetics and metabolism.

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

C. Ferreira, C. Groden, Danica Novacic, 2019, BMC Nephrology.

Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum

K. Kraemer, D. Whiteman, H. Levy, 1999, Journal of Inherited Metabolic Disease.

A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics.

J. White, T. Hyman, Y. Anikster, 2001, Molecular genetics and metabolism.

P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome

M. Brilliant, M. Huizing, N. Garrison, 2004, Journal of Medical Genetics.

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.

W. Gahl, Y. Anikster, R. Kleta, 2001, American journal of human genetics.

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.

M. Huizing, W. Gahl, William A Gahl, 2002, Current molecular medicine.

Novel mutations in the HPS1 gene among Puerto Rican patients

J. White, M. Huizing, G. Golas, 2011, Clinical genetics.

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

M. Huizing, A. Azem, J. Stephen, 2017, Clinical genetics.

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

R. Dale, R. Mains, F. Faucz, 2023, medRxiv.

Mutations of CTNS causing intermediate cystinosis.

Y. Anikster, J. Thoene, R. Lemons, 1999, Molecular genetics and metabolism.

CTNS mutations in an American-based population of cystinosis patients.

W. Gahl, Y. Anikster, J. Thoene, 1998, American journal of human genetics.

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.

E. Green, G. Bouffard, V. Maduro, 2000, Genome research.

CTNS mutations in African American patients with cystinosis.

M. Huizing, Y. Anikster, J. Thoene, 2001, Molecular genetics and metabolism.

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.

H. Blom, T. Vilboux, E. Levtchenko, 2011, Molecular genetics and metabolism.

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

J. White, M. Kaiser-Kupfer, M. Huizing, 2001, American journal of human genetics.

Hermansky‐Pudlak syndrome: the importance of molecular subtyping

J. White, M. Huizing, N. Thielen, 2010, Journal of thrombosis and haemostasis : JTH.

Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

J. White, W. Gahl, W. Westbroek, 2009, Journal of Medical Genetics.

Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.

J. White, M. Huizing, Y. Anikster, 2001, Molecular genetics and metabolism.

Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

W. Gahl, M. Huizing, H. Krämer, 2001, Gene.

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.

C. Freitag, H. Hakonarson, J. Swanson, 2010, Molecular psychiatry.

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

M. Huizing, Y. Anikster, C. Phornphutkul, 2001, American journal of human genetics.

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

M. Huizing, D. Krasnewich, E. Martins, 1999, Molecular genetics and metabolism.

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

H. Hakonarson, M. Bayés, J. McCracken, 2010, Molecular Psychiatry.

The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria

W. Gahl, I. Bernardini, W. Gahl, 1988, Journal of Inherited Metabolic Disease.

Chemical individuality: Concept and outlook

W. Gahl, 2008, Journal of Inherited Metabolic Disease.

Hutchinson-Gilford progeria syndrome : oral and craniofacial phenotypes

L. Gordon, W. Introne, W. Gahl, 2009 .

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

E. Green, J. Touchman, W. Gahl, 1999, Molecular genetics and metabolism.

NG.O.12 A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

J. Niederhuber, T. Vilboux, H. Pri-Chen, 2017, Neuromuscular Disorders.

NTBC and alkaptonuria.

Y. Anikster, W. Nyhan, W. Gahl, 1998, American journal of human genetics.

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

R. Dale, R. Mains, S. Stojilkovic, 2023, Frontiers in Endocrinology.