H. Stalker

发表

A Copy Number Variation Morbidity Map of Developmental Delay

Gregory M. Cooper, Carl Baker, Evan E. Eichler, 2011, Nature Genetics.

NF1 mutation analysis using a combined heteroduplex/SSCP approach

D. J. Driscoll, M. Wallace, S. Rasmussen, 1997, Human mutation.

Genetic counseling in Angelman syndrome: the challenges of multiple causes.

C. Williams, H. Stalker, 1998, American journal of medical genetics.

Angelman syndrome.

D. J. Driscoll, C. Williams, R. Zori, 2019, Current problems in pediatrics.

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

A. O’Donnell-Luria, L. Kunkel, P. Kang, 2022, Annals of clinical and translational neurology.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene

J. Belmont, M. Wallace, E. Davis, 2001, Human Genetics.

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

R. Schiffmann, D. Krasnewich, R. Zori, 2009, American journal of medical genetics. Part A.

Corrigendum: A copy number variation morbidity map of developmental delay

B. Coe, J. Rosenfeld, C. Baker, 2014, Nature Genetics.

Telegenetic medicine: improved access to services in an underserved area

R. Zori, H. Stalker, R. Wilson, 2006, Journal of telemedicine and telecare.

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.

D. J. Driscoll, C. Williams, F. Boyar, 1998, American journal of medical genetics.

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

Oliver H. Tam, J. Carey, D. Viskochil, 2018, American Journal of Medical Genetics. Part A.

Analysis of CpG C‐to‐T mutations in neurofibromatosis type 1

D. J. Driscoll, F. Collins, M. Wallace, 1998, Human mutation.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation?

D. Chitayat, H. Stalker, 1992, American journal of medical genetics.

Facial dysmorphism and digit anomalies in three siblings with severe developmental delay

N. Rahman, R. Zori, H. Stalker, 2011, Clinical dysmorphology.

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Katherine L Hill-Harfe, M. Wallace, R. Zori, 2005, American journal of human genetics.

Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?

R. Zori, H. Stalker, 1997, American journal of medical genetics.

A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development

H. Stalker, A. Dagli, C. Williams, 2008, American journal of medical genetics. Part A.

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader‐Willi‐like phenotype

R. Zori, B. Gray, H. Stalker, 2003, American journal of medical genetics. Part A.

Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?

C. Williams, S. Rasmussen, E. Ayoub, 1996, American journal of medical genetics.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

S. Nelson, L. Hudgins, M. Adam, 2015, The Journal of clinical endocrinology and metabolism.

High cognitive functioning and behavioral phenotype in Pallister‐Killian syndrome

R. Zori, B. Gray, H. Stalker, 2006, American journal of medical genetics. Part A.

Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects.

R. Zori, B. Gray, H. Stalker, 2001, American journal of medical genetics.

Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?

D. Chitayat, H. Stalker, E. Azouz, 1992, American journal of medical genetics.

Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

D. J. Driscoll, Kelly L. Adams, J. Rosenfeld, 2016, American journal of medical genetics. Part A.

TFAP2A mutations result in branchio-oculo-facial syndrome.

Geping Zhao, J. Mulliken, J. Milunsky, 2008, American journal of human genetics.

A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.

D. Marsh, R. Zori, B. Robinson, 2004, The Journal of pediatrics.

Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.

E. Jabs, M. Labuda, L. Ptáček, 1999, Genomics.

Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.

S. Aymé, M. Vekemans, V. D. Der Kaloustian, 1993, American journal of medical genetics.

Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.

D. Chitayat, M. Vekemans, H. Stalker, 1993, American journal of medical genetics.

Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

M. Wallace, R. Carter, R. Zori, 2002, American journal of medical genetics. Part A.

Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.

C. Williams, H. Stalker, A. Kumar, 1993, American journal of medical genetics.

Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome?

D. Chitayat, H. Stalker, F. Halal, 1993, American journal of medical genetics.

Genetic counseling in Angelman syndrome: gonadal mosaicism.

C. Williams, J. Wagstaff, H. Stalker, 1998, American journal of medical genetics.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.