Kamal Khan

发表

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

F. Alkuraya, A. Noegel, S. Baig, 2017, Annals of neurology.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

K. Lage, N. Katsanis, W. Crowley, 2020, Human molecular genetics.

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.

Jianqiu Xiao, R. Gbadegesin, E. Davis, 2018, Journal of the American Society of Nephrology : JASN.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

N. Katsanis, S. Baig, M. McDonald, 2019, American journal of human genetics.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

E. Bertini, V. Tiranti, R. Carrozzo, 2019, The Journal of clinical investigation.

Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.

N. Katsanis, R. Sampogna, S. Sanna-Cherchi, 2021, Kidney international.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Cheol‐Hee Kim, C. Skinner, R. Stevenson, 2020, Nature Communications.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Victoria E. Jackson, I. Scheffer, T. Strom, 2019, Genetics in Medicine.

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

A. Sinclair, Sijie He, N. Katsanis, 2021, Human Genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

S. Baig, R. Raininko, N. Dahl, 2016, Journal of the Neurological Sciences.

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

N. Katsanis, M. Natowicz, Kamal Khan, 2018, Human Genomics.

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

S. Baig, N. Dahl, J. Wikström, 2017, European Journal of Human Genetics.

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review.

N. Tommerup, S. Baig, Y. Sarwar, 2021, European journal of medical genetics.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees

S. Baig, A. Crosby, B. Chioza, 2021, American journal of medical genetics. Part A.

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

N. Katsanis, S. Baig, P. Ruggieri, 2018, Human Genomics.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

D. Goldstein, S. Mane, G. Ardissino, 2017 .

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

A. Kaykas, C. Bénéteau, B. Cogné, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.