J. Higgins

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The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

C. Woods, G. Taylor, R. Newbury-Ecob, 2005, Journal of Medical Genetics.

DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction.

M. H. El-Fouly, J. Higgins, S. Kapur, 1991, American journal of medical genetics.

A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito

P. Byers, T. Glover, D. Greenspan, 1996, Nature Genetics.

Clinical phenotype associated with terminal 2q37 deletion

G. Dewald, M. Pierpont, E. Christensen, 1995, Clinical genetics.

Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis.

J. Higgins, A. Kohrman, A. Scott-Emuakpor, 1972, Pediatric research.

The role of magnesium in the pathogenesis of bone disease in childhood cholestatic liver disease: a preliminary report.

B. Specker, J. Heubi, R. Sierra, 1997, Journal of pediatric gastroenterology and nutrition.

Renal tubular dysgenesis: delayed onset of oligohydramnios.

J. Opitz, H. Toriello, A. Swinford, 1989, American journal of medical genetics.

Flow cytometric immunophenotyping test for staging/monitoring neuroblastoma patients.

M. Warzynski, J. Higgins, R. Axtell, 2002, Cytometry.

Pulmonary and diaphragmatic agenesis: report of affected sibs.

H. Toriello, A. Jones, J. Higgins, 1985, American journal of medical genetics.

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

R. Weksberg, C. Moore, C. Stevens, 1997, American journal of medical genetics.

A multicenter investigation with D-FISH BCR/ABL1 probes.

S. Schwartz, G. Dewald, L. Oseth, 2000, Cancer genetics and cytogenetics.

Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.

C. Comstock, J. A. Johnson, J. Higgins, 1994, American journal of medical genetics.

Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys.

H. Toriello, Y. Lacassie, J. Higgins, 1993, American journal of medical genetics.

Double aneuploidy: the frequency of XXY in males with Down's syndrome.

F. Hecht, W. Kimberling, J. Miller, 1969, American journal of human genetics.

An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

T. Hassold, K. Bentley, L. Wisniewski, 1977, Journal of medical genetics.

Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities.

L. Wisniewski, J. Higgins, 1977, Journal of medical genetics.

Metabolism of alpha-aminoadipic and alpha-ketoadipic acids: studies using rat and beef liver, and human leukocytes.

C. Wilson, J. Higgins, R. Wilson, 1976, Clinica chimica acta; international journal of clinical chemistry.

α-Ketoadipic Aciduria: A Description of a New Metabolic Error in Lysine-Tryptophan Degradation

C. Wilson, S. C. Gates, J. Higgins, 1975, Pediatric Research.

Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?

H. Toriello, J. Higgins, S. Bauserman, 1985, American journal of medical genetics.

X-linked midline defects.

H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Occurrence of neural tube defects among first-, second-, and third-degree relatives of probands: results of a United States study.

H. Toriello, J. Higgins, H. V. Toriello, 1983, American journal of medical genetics.

Sibs with the polyasplenia developmental field defect.

H. Toriello, J. Higgins, R. Hofman, 1986, American journal of medical genetics. Supplement.

Familial occurrence of a developmental defect of the medial nasal processes.

J. Opitz, H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Isolated diaphragmatic defect in three sibs.

H. Toriello, J. Higgins, S. Kapur, 1986, American journal of medical genetics. Supplement.

A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

J. Higgins, A. Scott-Emuakpor, J. Heffelfinger, 1977, American journal of diseases of children.

Familial occurrence of congenital pulmonary lymphangiectasis. Genetic implications.

S. Warren, J. Higgins, S. Kapur, 1981, American journal of diseases of children.

Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis

H. Toriello, J. Higgins, R. Mann, 1995, Clinical dysmorphology.

Possible causal heterogeneity in spina bifida cystica.

H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Cytogenetic and clinical studies in five cases of inv dup(15)

T. Hassold, L. Wisniewski, J. Higgins, 1979, Human Genetics.

Partial tetrasomy 9 in a liveborn infant

L. Wisniewski, J. Higgins, G. D. Politis, 1978, Clinical genetics.

Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.

H. Toriello, J. Higgins, T. Miller, 1993, American journal of medical genetics.

Autosomal-recessive aplasia cutis congenita--report of two affected sibs.

H. Toriello, J. Higgins, D. F. Waterman, 1983 .

Clinical aspects of the MASA syndrome in a large family, including expressing females

E. Legius, J. Higgins, S. Kapur, 1994, Clinical genetics.

Report of a case and further delineation of the SHORT syndrome.

S. Wakefield, H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation

J. Thompson, J. Barranger, W. Balistreri, 2000, Clinical genetics.

Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

T. Glover, S. Wang, J. Higgins, 1991, American journal of human genetics.

Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q.

J. Higgins, A. Cousineau, A. Scott-Emuakpor, 1983, American journal of medical genetics.

Ovarian dysgenesis due to 45 X, 0/46 dic (X) mosaicism.

G. Holzman, J. Higgins, L. Valenta, 1977, The Journal of clinical endocrinology and metabolism.

X-linked syndrome of branchial arch and other defects.

H. Toriello, W. D. Moore, J. Higgins, 1985, American journal of medical genetics.

Omphalocele in half‐siblings

J. Higgins, S. Kapur, A. Scott-Emuakpor, 1980, Clinical genetics.

Nonrandomness of Translocations in Man: Preferential Entry of Chromosomes into 13-15/21 Translocaftons

F. Hecht, E. Lovrien, J. Melnyk, 1968, Science.

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.

T. Glover, J. Gorski, J. Higgins, 1993, Human molecular genetics.

Menkes syndrome in a girl with X-autosome translocation.

J. Opitz, B. Rogers, J. Higgins, 1987, American journal of medical genetics.

Fine mapping of X‐linked clasped thumb and mental retardation (MASA syndrome) in Xq28

T. Glover, E. Legius, J. Higgins, 1994, Clinical genetics.

Sex chromosome anomalies and essential tremor

J. Higgins, F. Baughman, J. Mann, 1973, Neurology.

A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

H. Toriello, J. Higgins, 1999, Clinical dysmorphology.

An apparently new syndrome of microcephalic primordial dwarfism and cataracts.

H. Toriello, W. Horton, J. Higgins, 1986, American journal of medical genetics.

Downregulation of taurocholate transport by ileal BBM and liver BLM in biliary-diverted rats.

J. Heubi, J. Higgins, J. M. Paul, 1994, American Journal of Physiology.

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation.

S. C. Gates, J. Higgins, R. W. Wilson, 1975, Pediatric research.

The carrying angle in sex chromosome anomalies.

F A Baughman, J V Higgins, T G Wadsworth, 1974, JAMA.