Ann C M Smith

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Discriminating power of localized three-dimensional facial morphology.

A. Karmiloff-Smith, B. Buxton, P. Scambler, 2005, American journal of human genetics.

The face of Smith-Magenis syndrome: a subjective and objective study

J. Allanson, F. Greenberg, Ann C M Smith, 1999, Journal of medical genetics.

SMITH–MAGENIS SYNDROME

A. Gropman, Ann C M Smith, 2021 .

Genetic counseling for the next 25 years: Models for the future

Ann C M Smith, R. Kenen, 1995, Journal of Genetic Counseling.

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

A. Gropman, Ann C M Smith, W. Duncan, 2006, Pediatric neurology.

Otologic and audiologic manifestations of hutchinson‐gilford progeria syndrome

W. Gahl, C. Brewer, C. Zalewski, 2011, The Laryngoscope.

Pharmacological treatment of disruptive behavior in Smith–Magenis syndrome

G. Laje, Rebecca A. Bernert, Ann C M Smith, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Autism spectrum features in Smith–Magenis syndrome

G. Laje, Ann C M Smith, M. Pao, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Analysis of the Sensory Profile in Children with Smith–Magenis Syndrome

Ann C M Smith, Hanna L Hildenbrand, 2012, Physical & occupational therapy in pediatrics.

Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith–Magenis Syndrome and a Twin Control

Ann C M Smith, Hanna L Hildenbrand, Michaele R Smith, 2009, Physical & occupational therapy in pediatrics.

New developments in Smith-Magenis syndrome (del 17p11.2)

A. Gropman, Ann C M Smith, S. Elsea, 2007, Current opinion in neurology.

To Use or Not to Use: The Prenatal Genetic Technology/Worry Conundrum

Ann C M Smith, R. Kenen, C. Watkins, 2000, Journal of Genetic Counseling.

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

S. Antonarakis, Xiang-Jiao Yang, E. Beaver, 2020, American journal of human genetics.

SMITH–MAGENIS SYNDROME

A. Gropman, Ann C M Smith, 2005, Cassidy and Allanson's Management of Genetic Syndromes.

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

Meredith Wilson, C. Vlangos, Ann C M Smith, 2005, American journal of medical genetics. Part A.

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

D. Ledbetter, U. Surti, S. Christian, 1996, Prenatal diagnosis.

Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant

G. Laje, W. Gahl, M. Huizing, 2016, American journal of medical genetics. Part A.

A complete set of human telomeric probes and their clinical application

D. Ledbetter, R. Regan, J. Flint, 1996, Nature Genetics.

Craniofacial and dental phenotype of Smith–Magenis syndrome

T. Hart, Ann C M Smith, J. Guadagnini, 2006, American journal of medical genetics. Part A.

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

W. Gahl, M. Huizing, T. Vilboux, 2011, PloS one.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

K. F. Fajardo, J. Snyder, D. Kerr, 2014, Molecular genetics and metabolism.

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

J. Lupski, S. Riazuddin, Z. Ahmed, 2001, Human Genetics.

Overview of Smith-Magenis syndrome.

R. Magenis, Ann C M Smith, S. Elsea, 2005, Journal of the Association of Genetic Technologists.

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

J. Mullikin, Nisc Comparative Sequencing Program, W. Gahl, 2017, Human Genetics.

Phenotype and course of Hutchinson-Gilford progeria syndrome.

F. Collins, E. Nabel, L. Gerber, 2008, The New England journal of medicine.

Variegation of autism related traits across seven neurogenetic disorders

G. Wallace, L. Clasen, A. Raznahan, 2022, Translational Psychiatry.

Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome

Ann C M Smith, P. Wolters, Staci Martin, 2006, Journal of autism and developmental disorders.

Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.

C. Brewer, A. Gropman, Ann C M Smith, 2009, Pediatric neurology.

Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

M. Huizing, A. Lewy, E. Boudreau, 2009, American journal of medical genetics. Part A.

Effects of Behavior Problems, Family Functioning, and Family Coping on Parent Stress in Families with a Child with Smith-Magenis Syndrome

J. Rojahn, Ann C M Smith, R. Morse, 2014 .

Opposite effects on facial morphology due to gene dosage sensitivity

R. Hennekam, M. Tassabehji, P. Hammond, 2014, Human Genetics.

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

Stephen R. Williams, S. Girirajan, C. Vlangos, 2008, Genetic testing.

To Use or Not to Use: Male Partners' Perspectives on Decision Making About Prenatal Diagnosis

Ann C M Smith, R. Kenen, C. Watkins, 2000, Journal of Genetic Counseling.

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype

E. Roeder, J. Bernstein, E. Faqeih, 2017, Human mutation.

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

J. Lupski, J. Bailey-Wilson, A. Gropman, 2002, Genetics in Medicine.

Auditory Phenotype of Smith-Magenis Syndrome.

C. Brewer, B. Finucane, C. Zalewski, 2017, Journal of speech, language, and hearing research : JSLHR.

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

D. Ledbetter, D. Pilz, W. Dobyns, 1998, Genetics in Medicine.

Autism, mental retardation, and chromosomal abnormalities

R. Hagerman, Ann C M Smith, A. Levitas, 1986, Journal of autism and developmental disorders.

Brief Report: Association of Sex Chromosome Anomalies With Childhood-Onset Psychotic Disorders

J. Rapoport, S. Kumra, L. Jacobsen, 1998 .

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

Ann C M Smith, W. Introne, W. Duncan, 2019, American journal of medical genetics. Part A.

Effects of Behavior Problems, Family Functioning, and Family Coping on Parent Stress in Families with a Child with Smith-Magenis Syndrome

J. Rojahn, Ann C M Smith, R. Morse, 2014, Journal of Developmental and Physical Disabilities.

Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.

J. Uitto, L. Schurgers, M. Tsokos, 2009, The American journal of pathology.

Diagnostic utility of daytime salivary melatonin levels in Smith–Magenis syndrome

M. Rollag, Ann C M Smith, C. Chik, 2010, American journal of medical genetics. Part A.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Whitney J. Smith, R. Redon, J. Rosenfeld, 2022, American journal of human genetics.

Update on master's genetic counseling training programs: Survey of curriculum content and graduate analysis summary

Ann C M Smith, 1993, Journal of Genetic Counseling.

Interstitial deletion of (17)(p11.2p11.2) in nine patients.

J. Opitz, J. Reiss, L. Mcgavran, 1986, American journal of medical genetics.

Familial pericentric inversion of chromosome 8.

J. Opitz, D. Peakman, A. Robinson, 1981, American journal of medical genetics.

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

D. Ledbetter, A. Tanigami, W. Dobyns, 1997, Human molecular genetics.

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

D. Ledbetter, W. Dobyns, S. Chong, 1997, Human molecular genetics.

Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases

J. Lupski, P. Patel, S. Girirajan, 2007, Clinical genetics.

Inverted Tandem Duplication of the Middle Segment of the Long Arm of Chromosome 14

A. Robinson, B. Ward, Ann C M Smith, 1981, Pediatrics.

Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).

T. Vilboux, S. Chandrasekharappa, Ann C M Smith, 2014, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

F Greenberg, F. Greenberg, Ann C M Smith, 1998, American journal of medical genetics.

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

F. Greenberg, Ann C M Smith, E. Dykens, 1998, American journal of medical genetics.

Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene.

K. Klinger, N. Holtzman, F. Collins, 1990, The New England journal of medicine.

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

D. Ledbetter, U. Surti, S. Christian, 1996, Prenatal diagnosis.

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

C. Vocke, W. Linehan, Leah Fleming, 2022, American journal of medical genetics. Part A.

Consideration of connective tissue dysfunction in the fragile X syndrome.

J. Opitz, R. Hagerman, L. Mcgavran, 1984, American journal of medical genetics.

Corrigendum: A complete set of human telomeric probes and their clinical application

D. Ledbetter, R. Regan, J. Flint, 1996, Nature Genetics.

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

P. Byers, D. Milewicz, Ann C M Smith, 1993, American journal of human genetics.