S. Brooks

发表

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

N. Katsanis, David W. Reid, C. Nicchitta, 2014, Genetics.

Exclusion of APC and VHL gene deletions by array-based comparative hybridization in two patients with microscopically visible chromosomal aberrations.

R. Kurvathi, D. Streck, G. Toruner, 2007, Cancer genetics and cytogenetics.

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

W. Brown, A. Jeziorowska, S. Brooks, 1994, JAMA.

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

W. Chung, Yufeng Shen, A. Telegrafi, 2016, American journal of human genetics.

A common mutation site in the β-galactosidase gene originates in Puerto Rico

A. Shanske, R. Boustany, S. Brooks, 1996 .

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis

W. Brown, J. Hartikainen, S. Brooks, 1998, Clinical genetics.

Abnormal acid phosphatases in neuronal ceroid-lipofuscinoses.

S. Brooks, K. Khan, R. Pullarkat, 1995, American journal of medical genetics.

Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case

S. Brooks, C. Botti, Vikram Bhise, 2018, Journal of child neurology.

Medium chain acyl‐CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening

E. Lyon, J. Millonig, S. Brooks, 2012, American journal of medical genetics. Part A.

8 Genetic counseling in the neuronal ceroid lipofuscinoses

S. Brooks, 2001 .

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

S. Schwartz, W. Chung, P. Papenhausen, 2018, American journal of medical genetics. Part A.

Lysosomal ceroid depletion by drugs: Therapeutic implications for a hereditary neurodegenerative disease of childhood

K. Wisniewski, A. Mukherjee, S. Brooks, 2001, Nature Medicine.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

M. Shaw, J. Gécz, P. Tarpey, 2016, BMJ Open.

An Extremely Rare Disorder of Somatic Mosaicism: CLOVES Syndrome

S. Brooks, S. Anderson, 2016, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series

Naomi Yachelevich, S. Nolin, S. Brooks, 2011, American journal of medical genetics. Part A.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

B. Loeys, R. Segel, S. Brooks, 2010, European Journal of Human Genetics.

Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses.

P. Warburton, M. Velinov, S. Brooks, 2004, Annales de genetique.

When the Usual Symptoms Become an Unusual Diagnosis: A Case Report of Trifunctional Protein Complex

S. Brooks, S. Anderson, 2013, Neonatal Network.

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

C. Tifft, N. Raben, A. Reuser, 1998, American journal of human genetics.

1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype

E. Zackai, S. Brooks, K. Izumi, 2012, American journal of medical genetics. Part A.

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene

W. Brown, K. Wisniewski, W. Kaczmarski, 1998, Human Genetics.

Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.

W. Brown, K. Wisniewski, E. Kida, 1997, Folia neuropathologica.

Specific substrate for CLN2 protease/tripeptidyl-peptidase I assay.

S. Brooks, R. Pullarkat, M. Junaid, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

S. Brooks, R. Hirschhorn, A. Grix, 1994, Human molecular genetics.

Neonatal Gaucher Disease Presenting as Persistent Thrombocytopenia

S. Brooks, P. Roth, D. Potaznik, 2005, Journal of Perinatology.

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature

M. Zherebtsov, G. Toruner, S. Brooks, 2007, Clinical dysmorphology.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

J. Raes, Y. Peer, Y. van de Peer, 2005, American journal of human genetics.

Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review.

S. Brooks, C. Botti, E. Garrow, 2011, Genetic counseling.

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

W. Brown, A. Jeziorowska, S. Brooks, 1993 .

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

S. Nelson, M. Reuter, J. Martinez-Agosto, 2021, Orphanet Journal of Rare Diseases.

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors

W. Brown, S. Nolin, S. Brooks, 1994, Journal of Genetic Counseling.

Congenital Glucose-Galactose Malabsorption: A Case Report.

S. Brooks, B. Xin, S. Anderson, 2017, Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners.

Including family history leads to over-estimation of prior risk in MSAFP assessment.

S. Brooks, J. Berliner, K. L. Savona, 1996, American journal of medical genetics.

Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome

S. Brooks, S. Anderson, 2015, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

S. Cederbaum, C. Rowland, P. Tanpaiboon, 2021, Molecular genetics and metabolism reports.

A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis.

K. Wisniewski, S. Brooks, R. Pullarkat, 1999, Clinica chimica acta; international journal of clinical chemistry.